| Variant ID | 607 |
|---|---|
| Entrez Gene ID | 5290 |
| Gene | PIK3CA (GeneCards) |
| Location | hg19 3:112944554-112944554
hg38 3:113225707-113225707 |
| Disease | Megalencephaly capillary malformation (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000003.11:g.112944554 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 914 |
| Amino acid changes in protein | G > R |
| Position in cDNA | 2740 |
| Changes in cDNA | G > A |
| mRNA accession | NM_002834.3 |
| mRNA length | 6300 |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.5749 (Deleterious) |
| Entrez Gene ID | 5290 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIK3CA (GeneCards) |
| Number of variants in PIK3CA in this database | 109 (view all the variants) |
| Full name | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| Band | 3q26.32 |
| Other IDs | Vega: OTTHUMG00000157311 OMIM: 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] |
| Individual ID | 24939587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24939587 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Megalencephaly capillary malformation (view all the variants in this disease) |
| OMIM ID | 60250 |
| Pubmed ID | 24939587 |
|---|---|
| Title | Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? |
| Journal | European Journal of Human Genetics |
| Publication date | 2015.03 |
| Disease | Megalencephaly capillary malformation |
| Population | Turkish |
| Incidence | 0.0004 |
| Number of cases | Male cases: 1; |