| Variant ID | 24837 |
|---|---|
| Entrez Gene ID | 56171 |
| Gene | DNAH7 (GeneCards) |
| Location | hg19 2:196861821-196861821
hg38 2:195997097-195997097 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.196861821 G>A (Genome Assembly: GRCh37) |
| 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1158 |
| CADD Raw score (version 1.3) | 0.130022 (Deleterious) |
| FATHMM raw prediction score | 0.15909 (Tolerated) |
| Deleterious probability by DeFine | 0.5975 (Deleterious) |
| Entrez Gene ID | 56171 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH7 (GeneCards) |
| Number of variants in DNAH7 in this database | 5 (view all the variants) |
| Full name | dynein axonemal heavy chain 7 |
| Band | 2q32.3 |
| Other IDs | Vega: OTTHUMG00000154438 OMIM: 610061 HGNC: HGNC:18661 Ensembl: ENSG00000118997 |
| Other names | None |
| Summary | DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |