| Variant ID | 29855 |
|---|---|
| Entrez Gene ID | 54477 |
| Gene | PLEKHA5 (GeneCards) |
| Location | hg19 12:19522658-19522658
hg38 12:19369724-19369724 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.19522658 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006457 |
|---|---|
| EIGEN score | 0.4777 |
| CADD Raw score (version 1.3) | 2.058927 (Deleterious) |
| FATHMM raw prediction score | 0.14139 (Tolerated) |
| Deleterious probability by DeFine | 0.6409 (Deleterious) |
| Entrez Gene ID | 54477 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLEKHA5 (GeneCards) |
| Number of variants in PLEKHA5 in this database | 4 (view all the variants) |
| Full name | pleckstrin homology domain containing A5 |
| Band | 12p12.3 |
| Other IDs | Vega: OTTHUMG00000167921 OMIM: 607770 HGNC: HGNC:30036 Ensembl: ENSG00000052126 |
| Other names | PEPP2, PEPP-2 |
| Summary | None |
| Individual ID | 28867142.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |