Variant ID | 1256 |
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Entrez Gene ID | 56171 |
Gene | DNAH7 (GeneCards) |
Location | hg19 2:196651885-196651885
hg38 2:195787161-195787161 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | Hiseq |
Mutation(HGVS format) | NC_000002.11:g.196651885_196651885 del (Genome Assembly: GRCh37) |
Exon or Intron | Exon |
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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 | NM_018897.2 |
mRNA length | 12408 |
Reference length | 243199373 |
Deleterious probability by DeFine | 0.8883 (Deleterious) |
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Entrez Gene ID | 56171 (NCBI Gene) |
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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 | 28235832.04 (view all the variants in this individual) |
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Pubmed ID | 28235832 |
Whose mosaic mutation | Male Patient |
Phenotype | 3 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
OMIM ID | 209850 |
Pubmed ID | 28235832 |
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Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
Journal | Genome Research |
Publication date | 2017.04 |
Disease | Autism Spectrum Disorders |
Number of cases | Male cases: 3; cases of unknown sex: 1; |