Variant ID | 22849 |
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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) |
Exon or Intron | NA |
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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 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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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) |
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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 ID | 29217587.01 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217587 |
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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; |