| Variant ID | 24241 |
|---|---|
| Entrez Gene ID | 57526 |
| Gene | PCDH19 (GeneCards) |
| Location | hg19 X:99602786-99602786
hg38 X:100347788-100347788 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000023.10:g.99602786 C>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.361044 (Deleterious) |
| FATHMM raw prediction score | 0.04659 (Tolerated) |
| Deleterious probability by DeFine | 0.2345 (Neutral) |
| Entrez Gene ID | 57526 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDH19 (GeneCards) |
| Number of variants in PCDH19 in this database | 24 (view all the variants) |
| Full name | protocadherin 19 |
| Band | Xq22.1 |
| Other IDs | Vega: OTTHUMG00000022000 OMIM: 300460 HGNC: HGNC:14270 Ensembl: ENSG00000165194 |
| Other names | EFMR, EIEE9 |
| Summary | The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |