Overview

Variant ID 22849
Entrez Gene ID 113510
Gene HELQ (GeneCards)
Location hg19 4:84356246-84356246
hg38 4:83435093-83435093
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000004.11:g.84356246 T>G (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 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3833
CADD Raw score (version 1.3) 0.002083 (Deleterious)
FATHMM raw prediction score 0.09923 (Tolerated)
Deleterious probability by DeFine 0.0543 (Neutral)
Entrez Gene ID 113510 (NCBI Gene)
Official Gene Symbol HELQ (GeneCards)
Number of variants in HELQ in this database 2 (view all the variants)
Full name helicase, POLQ like
Band 4q21.23
Other IDs Vega: OTTHUMG00000130423
OMIM: 606769
HGNC: HGNC:18536
Ensembl: ENSG00000163312
Other names HEL308
Summary HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]

Individual #1

Individual ID 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;