RGD:127337546 Rat Genome Database

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Variant: RGD:127337546 -  Homo sapiens

RGD ID: 127337546
RS ID: rs758048924
ClinVar ID: CV1145840
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYH11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 15,880,598
GRCh38 16 15,786,741
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1401t1:c.531-9G>A
LRG_1401t2:c.531-9G>A
NM_001040113.2:c.531-9G>A
NM_001040114.2:c.531-9G>A
More... 		02/10/2020 intron variant likely benign Aortic aneurysm/aortic dissection and patent ductus arteriosus
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001492908 CLINVAR
dbSNP (RS) rs758048924 CLINVAR
MedGen C1851504 CLINVAR
NCBI Gene MYH11 CLINVAR
OMIM 132900 CLINVAR
  160745 CLINVAR