RGD:28900847 Rat Genome Database

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Variant: RGD:28900847 -  Homo sapiens

RGD ID: 28900847
RS ID: rs552541075
ClinVar ID: CV866515
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 90,712,541
GRCh38 10 88,952,784
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_781t1:c.-77T>C
LRG_781:g.43607T>C
NG_011541.1:g.43607T>C
NC_000010.11:g.88952784A>G
More... 		01/13/2018 intron variant benign|uncertain significance FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI; MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACTA2
Accession:NM_001320855
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406471
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406468
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001141945
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406462
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406463
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001406467
Location:5UTRS;INTRON

Gene Symbol:ACTA2
Accession:NM_001613
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406469
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406464
Location:INTRON

Gene Symbol:ACTA2
Accession:NM_001406466
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104012 CLINVAR
  RCV001107636 CLINVAR
dbSNP (RS) rs552541075 CLINVAR
MedGen C2673186 CLINVAR
  C3151201 CLINVAR
NCBI Gene ACTA2 CLINVAR
OMIM 102620 CLINVAR
  611788 CLINVAR
  613834 CLINVAR