| Variant ID | 100 |
|---|---|
| Entrez Gene ID | 57526 |
| Gene | PCDH19 (GeneCards) |
| Location | hg19 X:99662577-99662577
hg38 X:100407579-100407579 |
| Disease | Early infantile epileptic encephalopathy9 (view all the variants in this disease) |
| Method | ABI3130XL |
| Mutation(HGVS format) | NC_000023.10:g.99662577 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 340 |
| Amino acid changes in protein | N > S |
| Position in cDNA | 1019 |
| Changes in cDNA | A > G |
| mRNA accession | NM_001184880.1 |
| mRNA length | 3447 |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 4.26704 (Deleterious) |
| FATHMM raw prediction score | 0.97724 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4 (Deleterious) |
| PROVEAN score | -4.59 (Deleterious) |
| MetaSVM score | 0.493 (Deleterious) |
| MetaLR score | 0.59 (Deleterious) |
| MCAP score | 0.727 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.65 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.017 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.009 |
| Deleterious probability by iFish2 | 0.9929 (Deleterious) |
| Deleterious probability by DeFine | 0.9793 (Deleterious) |
| 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 | 22949144.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 22949144 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 1 ( female: 1; ) |
| Disease | Early infantile epileptic encephalopathy9 (view all the variants in this disease) |
| OMIM ID | 300088 |
| Pubmed ID | 22949144 |
|---|---|
| Title | Somatic mosaicism of PCDH19 mutation in a family with low penetrance EFMR |
| Journal | Neurogenetics |
| Publication date | 2012.11 |
| Disease | Early infantile Epileptic encephalopathy9 |
| Number of cases | Female cases: 1; |