RGD:38473239 Rat Genome Database

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Variant: RGD:38473239 -  Homo sapiens

RGD ID: 38473239
RS ID: rs1785297774
ClinVar ID: CV959848
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 21,646,257
GRCh38 7 21,606,639
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277115.2:c.3766-8A>G
NG_012886.2:g.68425A>G
NC_000007.14:g.21606639A>G
NC_000007.13:g.21646257A>G
More...
03/28/2020 intron variant likely pathogenic|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAH11
Accession:NM_001277115
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001231738 CLINVAR
dbSNP (RS) rs1785297774 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR