RGD:11604111 Rat Genome Database

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Variant: RGD:11604111 -  Homo sapiens

RGD ID: 11604111
RS ID: rs149059995
ClinVar ID: CV323194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA2  ACTA2-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 90,694,875
GRCh38 10 88,935,118
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_781t1:c.*105G>T
LRG_781:g.61273G>T
NG_011541.1:g.61273G>T
NC_000010.11:g.88935118C>A
More... 		01/12/2018 3 prime utr variant benign|uncertain significance infancy <1 / 1 000 000 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_001406468
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001406469
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001406462
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001406467
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001406463
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001613
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001320855
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001406471
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001406466
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001406464
Location:3UTRS;EXON

Gene Symbol:ACTA2
Accession:NM_001141945
Location:3UTRS;EXON

Gene Symbol:ACTA2-AS1
Accession:NR_125373
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000360914 CLINVAR
  RCV000404237 CLINVAR
dbSNP (RS) rs149059995 CLINVAR
MedGen C2673186 CLINVAR
  C3151201 CLINVAR
NCBI Gene ACTA2 CLINVAR
  ACTA2-AS1 CLINVAR
OMIM 102620 CLINVAR
  611788 CLINVAR
  613834 CLINVAR