| Variant ID | 30200 |
|---|---|
| Entrez Gene ID | 57526 |
| Gene | PCDH19 (GeneCards) |
| Location | hg19 X:99661447-99661447
hg38 X:100406449-100406449 |
| Disease | EIEE9 (view all the variants in this disease) |
| Method | Custom capture |
| Mutation(HGVS format) | NC_000023.10:g.99661447 T>C (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Exon nc | 2 |
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | 2147 |
| Changes in cDNA | T > C |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 3.661977 (Deleterious) |
| FATHMM raw prediction score | 0.99461 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.95 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.723 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.292 |
| Deleterious probability by DeFine | 0.958 (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 | 28837158.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28837158 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | EIEE9 (view all the variants in this disease) |
| OMIM ID | 300088 |
| Pubmed ID | 28837158 |
|---|---|
| Title | High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders |
| Journal | Genetics in Medicine |
| Publication date | 2017.08 |
| Disease | Epilepsy related neurodevelopmental disorder |
| Number of cases | Male cases: 22; Female cases: 9; |