Overview

Variant ID 30199
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)

Other information

Exon or Intron Intron
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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
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)
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 #1

Individual ID 28837158.12 (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

Publication #1: 28837158

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;