Variant ID | 30199 |
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Entrez Gene ID | 57526 |
Gene | PCDH19 (GeneCards) |
Location | hg19 X:99605642-99605642
hg38 X:100350644-100350644 |
Disease | EIEE9 (view all the variants in this disease) |
Method | Raindance Emulsion PCR |
Mutation(HGVS format) | NC_000023.10:g.99605642 T>C (Genome Assembly: hg19) |
Exon or Intron | Intron |
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Exon nc | 2 |
Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | 2534 |
Changes in cDNA | T > C |
mRNA accession | NA |
mRNA length | NA |
Reference length | 155270560 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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CADD Raw score (version 1.3) | 4.28104 (Deleterious) |
FATHMM raw prediction score | 0.99432 (Tolerated) |
MutationTaster score | 1 (Deleterious) |
Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
PhyloP score based on multiple alignment of 100 vertebrates | 8.158 |
PhastCons score based on multiple alignment of 100 vertebrates | 1 |
SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.82 |
Deleterious probability by DeFine | 0.9662 (Deleterious) |
Entrez Gene ID | 57526 (NCBI Gene) |
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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 | 28837158.12 (view all the variants in this individual) |
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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 |
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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; |