RGD:34900802 Rat Genome Database

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Variant: RGD:34900802 -  Homo sapiens

RGD ID: 34900802
RS ID: rs779757963
ClinVar ID: CV915928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 15,880,600
GRCh38 16 15,786,743
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001040114.2:c.531-11G>A
NM_022844.3:c.531-11G>A
NM_001040113.2:c.531-11G>A
NM_002474.3:c.531-11G>A
More... 		11/14/2018 intron variant likely benign Aortic aneurysm/aortic dissection and patent ductus arteriosus; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MYH11
Accession:NM_002474
Location:INTRON

Gene Symbol:MYH11
Accession:NM_022844
Location:INTRON

Gene Symbol:MYH11
Accession:NM_001040114
Location:INTRON

Gene Symbol:MYH11
Accession:NM_001040113
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001190692 CLINVAR
  RCV002560091 CLINVAR
dbSNP (RS) rs779757963 CLINVAR
MedGen C1851504 CLINVAR
  C4707243 CLINVAR
NCBI Gene MYH11 CLINVAR
OMIM 132900 CLINVAR
  160745 CLINVAR