Variant ID | 28177 |
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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) |
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 | 90354753 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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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) |
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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 ID | 29217587.02 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |