Overview

Variant ID 28127
Entrez Gene ID 55567
Gene DNAH3 (GeneCards)
Location hg19 16:21130188-21130188
hg38 16:21118867-21118867
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000016.9:g.21130188 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 90354753

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0473
CADD Raw score (version 1.3) 0.446831 (Deleterious)
FATHMM raw prediction score 0.17186 (Tolerated)
Deleterious probability by DeFine 0.4975 (Neutral)
Entrez Gene ID 55567 (NCBI Gene)
Official Gene Symbol DNAH3 (GeneCards)
Number of variants in DNAH3 in this database 4 (view all the variants)
Full name dynein axonemal heavy chain 3
Band 16p12.3
Other IDs Vega: OTTHUMG00000090677
OMIM: 603334
HGNC: HGNC:2949
Ensembl: ENSG00000158486
Other names HDHC8, HEL-36, DNAHC3B, HSADHC3, DNAHC3-B
Summary This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

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