RGD:127326293 Rat Genome Database

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Variant: RGD:127326293 -  Homo sapiens

RGD ID: 127326293
RS ID: rs1411318617
ClinVar ID: CV1160806
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 90,703,676
GRCh38 10 88,943,919
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001613.4:c.259-12C>T
LRG_781:g.52472C>T
NG_011541.1:g.52472C>T
NC_000010.11:g.88943919G>A
More... 		02/02/2021 intron variant likely benign FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACTA2
Accession:NM_001406469
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001613
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406463
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406467
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406468
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406464
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406471
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406466
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001141945
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001320855
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406462
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001525874 CLINVAR
  RCV003633589 CLINVAR
dbSNP (RS) rs1411318617 CLINVAR
MedGen C2673186 CLINVAR
  C4707243 CLINVAR
NCBI Gene ACTA2 CLINVAR
OMIM 102620 CLINVAR
  611788 CLINVAR