Overview

Variant ID 1256
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)

Other information

Exon or Intron Exon
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

Annotations and predictions

Deleterious probability by DeFine 0.8883 (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 #1

Individual ID 28235832.04 (view all the variants in this individual)
Pubmed ID 28235832
Whose mosaic mutation Male Patient  
Phenotype 3  
Disease Autism Spectrum Disorders (view all the variants in this disease)
OMIM ID 209850

Publication #1: 28235832

Pubmed ID 28235832
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;