| Entrez Gene ID | 5290 |
|---|---|
| Official Gene Symbol | PIK3CA (GeneCards) |
| Full name | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| Location | 3q26.32 |
| Other ids | Vega : OTTHUMG00000157311 MIM : 171834 HGNC : HGNC:8975 Ensembl : ENSG00000121879 |
| Other names | MCM, CWS5, MCAP, PI3K, CLOVE, MCMTC, PI3K-alpha, p110-alpha |
| Summary | Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016] |
Found 109 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | Megalencephaly capillary malformation polymicrogyria syndrome | Hiseq2000 |
| 111 | 5290 | PIK3CA | 3 | 178927980 | 178927980 | Congenital lipomatous overgrowth vascular malformations and epidermal nevi | Hiseq2000 Massively Parallel RNA Sequencing |
| 112 | 5290 | PIK3CA | 3 | 178927980 | 178927980 | Congenital lipomatous overgrowth vascular malformations and epidermal nevi | Hiseq2000 Massively Parallel RNA Sequencing |
| 113 | 5290 | PIK3CA | 3 | 178936082 | 178936082 | Congenital lipomatous overgrowth vascular malformations and epidermal nevi | Hiseq2000 Massively Parallel RNA Sequencing |
| 114 | 5290 | PIK3CA | 3 | 178936082 | 178936082 | Congenital lipomatous overgrowth vascular malformations and epidermal nevi | Hiseq2000 Massively Parallel RNA Sequencing |
| 115 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | Congenital lipomatous overgrowth vascular malformations and epidermal nevi | Hiseq2000 Massively Parallel RNA Sequencing |
| 116 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | Congenital lipomatous overgrowth vascular malformations and epidermal nevi | Hiseq2000 Massively Parallel RNA Sequencing |
| 607 | 5290 | PIK3CA | 3 | 112944554 | 112944554 | Megalencephaly capillary malformation | Hiseq2000 Massively Parallel RNA Sequencing Sanger |
| 674 | 5290 | PIK3CA | 3 | 112944554 | 112944554 | Venous Malformation | Hiseq2000 Massively Parallel RNA Sequencing Sanger |
| 708 | 5290 | PIK3CA | 3 | 178916891 | 178916891 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 709 | 5290 | PIK3CA | 3 | 178916891 | 178916891 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 710 | 5290 | PIK3CA | 3 | 178916924 | 178916924 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 711 | 5290 | PIK3CA | 3 | 178916924 | 178916924 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 712 | 5290 | PIK3CA | 3 | 178921548 | 178921548 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 713 | 5290 | PIK3CA | 3 | 178921552 | 178921552 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 714 | 5290 | PIK3CA | 3 | 178921566 | 178921566 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 715 | 5290 | PIK3CA | 3 | 178922324 | 178922324 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 716 | 5290 | PIK3CA | 3 | 178922324 | 178922324 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 717 | 5290 | PIK3CA | 3 | 178922364 | 178922364 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 718 | 5290 | PIK3CA | 3 | 178922364 | 178922364 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 719 | 5290 | PIK3CA | 3 | 178922364 | 178922364 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 720 | 5290 | PIK3CA | 3 | 178922364 | 178922364 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 721 | 5290 | PIK3CA | 3 | 178922364 | 178922364 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 722 | 5290 | PIK3CA | 3 | 178922364 | 178922364 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 723 | 5290 | PIK3CA | 3 | 178928067 | 178928067 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 724 | 5290 | PIK3CA | 3 | 178928067 | 178928067 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 725 | 5290 | PIK3CA | 3 | 178928079 | 178928079 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 726 | 5290 | PIK3CA | 3 | 178928079 | 178928079 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 727 | 5290 | PIK3CA | 3 | 178928079 | 178928079 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 728 | 5290 | PIK3CA | 3 | 178928079 | 178928079 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 729 | 5290 | PIK3CA | 3 | 178928078 | 178928083 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 730 | 5290 | PIK3CA | 3 | 178916930 | 178916930 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 731 | 5290 | PIK3CA | 3 | 178916957 | 178916957 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 732 | 5290 | PIK3CA | 3 | 178916957 | 178916957 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 733 | 5290 | PIK3CA | 3 | 178916957 | 178916957 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 734 | 5290 | PIK3CA | 3 | 178916957 | 178916957 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 735 | 5290 | PIK3CA | 3 | 178936082 | 178936082 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 736 | 5290 | PIK3CA | 3 | 178936091 | 178936091 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 737 | 5290 | PIK3CA | 3 | 178936093 | 178936093 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 738 | 5290 | PIK3CA | 3 | 178936093 | 178936093 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 739 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 740 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 741 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 742 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 743 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 744 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 745 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 746 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 747 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 748 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 749 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 750 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 751 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 752 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 753 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 754 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 755 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 756 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 757 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 758 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 759 | 5290 | PIK3CA | 3 | 178948044 | 178948044 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 760 | 5290 | PIK3CA | 3 | 178948100 | 178948100 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 761 | 5290 | PIK3CA | 3 | 178948136 | 178948136 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 762 | 5290 | PIK3CA | 3 | 178952006 | 178952006 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 763 | 5290 | PIK3CA | 3 | 178952018 | 178952018 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 764 | 5290 | PIK3CA | 3 | 178952048 | 178952048 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 765 | 5290 | PIK3CA | 3 | 178952048 | 178952048 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 766 | 5290 | PIK3CA | 3 | 178952049 | 178952049 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 767 | 5290 | PIK3CA | 3 | 178952074 | 178952074 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 768 | 5290 | PIK3CA | 3 | 178952074 | 178952074 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 769 | 5290 | PIK3CA | 3 | 178952074 | 178952074 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 770 | 5290 | PIK3CA | 3 | 178952074 | 178952074 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 771 | 5290 | PIK3CA | 3 | 178952074 | 178952074 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 772 | 5290 | PIK3CA | 3 | 178952074 | 178952074 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 773 | 5290 | PIK3CA | 3 | 178952084 | 178952084 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 774 | 5290 | PIK3CA | 3 | 178952084 | 178952084 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 775 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 776 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 777 | 5290 | PIK3CA | 3 | 178952090 | 178952090 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 778 | 5290 | PIK3CA | 3 | 178952152 | 178952152 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 779 | 5290 | PIK3CA | 3 | 178952152 | 178952152 | PIK3CA associated developmental disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger |
| 1505 | 5290 | PIK3CA | 3 | 178936082 | 178936082 | Hemimegalencephaly | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger |
| 1506 | 5290 | PIK3CA | 3 | 178916876 | 178916876 | Global Developmental Delay | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 |
| 1507 | 5290 | PIK3CA | 3 | 178947865 | 178947865 | Autism Spectrum Disorders | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 |
| 1508 | 5290 | PIK3CA | 3 | 178936082 | 178936082 | Macrodactyly | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 |
| 1509 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | macrodactyly | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA |
| 1510 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | macrodactyly | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA |
| 1511 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | macrodactyly | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA |
| 1512 | 5290 | PIK3CA | 3 | 178936091 | 178936091 | macrodactyly | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA |
| 1513 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | macrodactyly | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA |
| 1514 | 5290 | PIK3CA | 3 | 178952085 | 178952085 | macrodactyly | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA |
| 30432 | 5290 | PIK3CA | 3 | 178916728 | 178916728 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP |
| 30615 | 5290 | PIK3CA | 3 | 178921491 | 178921491 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 30616 | 5290 | PIK3CA | 3 | 178951946 | 178951946 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 30617 | 5290 | PIK3CA | 3 | 178942606 | 178942606 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 30618 | 5290 | PIK3CA | 3 | 178947073 | 178947073 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 30619 | 5290 | PIK3CA | 3 | 178921467 | 178921467 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 31615 | 5290 | PIK3CA | 3 | 178919193 | 178919193 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 31616 | 5290 | PIK3CA | 3 | 178916924 | 178916924 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 31617 | 5290 | PIK3CA | 3 | 178952049 | 178952049 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 31618 | 5290 | PIK3CA | 3 | 178919283 | 178919283 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 33236 | 5290 | PIK3CA | 3 | 178916903 | 178916903 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 33237 | 5290 | PIK3CA | 3 | 178916903 | 178916903 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 33238 | 5290 | PIK3CA | 3 | 178916675 | 178916675 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 33239 | 5290 | PIK3CA | 3 | 178952146 | 178952146 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 34047 | 5290 | PIK3CA | 3 | 178947841 | 178947841 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 34048 | 5290 | PIK3CA | 3 | 178937017 | 178937017 | Asymptomatic | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel |
| 34632 | 5290 | PIK3CA | 3 | 178938934 | 178938934 | Megalencephaly capillary malformation syndrome | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel Whole Exome Sequencing Sanger Sequencing |
| 34685 | 5290 | PIK3CA | 3 | 178936082 | 178936082 | Pediatric and Developmental Pathology | Hiseq2000 Massively Parallel RNA Sequencing Sanger HiSeq2500 GS Sanger Sanger HiSeq 1500 ABI Prism 7000 NA smMIP NGS gene panel Whole Exome Sequencing Sanger Sequencing Long-range PCR PCR-NGS |