Overview

Variant ID 21034
Entrez Gene ID 284403
Gene WDR62 (GeneCards)
Location hg19 19:36564934-36564934
hg38 19:36074032-36074032
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000019.9:g.36564934 C>A (Genome Assembly: GRCh37)

Other information

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 59128983

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2941
CADD Raw score (version 1.3) 0.090061 (Deleterious)
FATHMM raw prediction score 0.08194 (Tolerated)
Deleterious probability by DeFine 0.3733 (Neutral)
Entrez Gene ID 284403 (NCBI Gene)
Official Gene Symbol WDR62 (GeneCards)
Number of variants in WDR62 in this database 1 (view all the variants)
Full name WD repeat domain 62
Band 19q13.12
Other IDs Vega: OTTHUMG00000048139
OMIM: 613583
HGNC: HGNC:24502
Ensembl: ENSG00000075702
Other names MCPH2, C19orf14
Summary This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

Individual #1

Individual ID 29217584.17 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;