Overview

Variant ID 16889
Entrez Gene ID 121549
Gene ASCL4 (GeneCards)
Location hg19 12:108225284-108225284
hg38 12:107831507-107831507
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000012.11:g.108225284 T>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 133851895

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1689
CADD Raw score (version 1.3) 0.620805 (Deleterious)
FATHMM raw prediction score 0.17457 (Tolerated)
Deleterious probability by DeFine 0.1416 (Neutral)
Entrez Gene ID 121549 (NCBI Gene)
Official Gene Symbol ASCL4 (GeneCards)
Number of variants in ASCL4 in this database 5 (view all the variants)
Full name achaete-scute family bHLH transcription factor 4
Band 12q23.3
Other IDs Vega: OTTHUMG00000156964
OMIM: 609155
HGNC: HGNC:24311
Ensembl: ENSG00000187855
Other names HASH4, bHLHa44
Summary Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]

Individual #1

Individual ID 29217584.16 (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;