RGD:152090200 Rat Genome Database

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Variant: RGD:152090200 -  Homo sapiens

RGD ID: 152090200
RS ID: rs866020416
ClinVar ID: CV1594014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 21,747,311
GRCh38 7 21,707,693
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.6547-6C>T
NG_012886.2:g.169479C>T
NC_000007.14:g.21707693C>T
NC_000007.13:g.21747311C>T
 12/03/2020 intron variant likely benign
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 RCV002171722 CLINVAR
dbSNP (RS) rs866020416 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR