Overview

Variant ID 27871
Entrez Gene ID 1778
Gene DYNC1H1 (GeneCards)
Location hg19 14:102449027-102449027
hg38 14:101982690-101982690
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000014.8:g.102449027 G>T (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 107349540

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2867
CADD Raw score (version 1.3) -0.121389 (Deleterious)
FATHMM raw prediction score 0.08322 (Tolerated)
Deleterious probability by DeFine 0.1296 (Neutral)
Entrez Gene ID 1778 (NCBI Gene)
Official Gene Symbol DYNC1H1 (GeneCards)
Number of variants in DYNC1H1 in this database 6 (view all the variants)
Full name dynein cytoplasmic 1 heavy chain 1
Band 14q32.31
Other IDs Vega: OTTHUMG00000171644
OMIM: 600112
HGNC: HGNC:2961
Ensembl: ENSG00000197102
Other names p22, DHC1, DNCL, DYHC, HL-3, CMT2O, DHC1a, DNCH1, DNECL, Dnchc1, SMALED1
Summary Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID