RGD:38479130 Rat Genome Database

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Variant: RGD:38479130 -  Homo sapiens

RGD ID: 38479130
RS ID: rs1940766958
ClinVar ID: CV936173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVRL1  LOC127824197  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 52,307,857
GRCh38 12 51,914,073
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_543t1:c.625G>A
NM_000020.3:c.625G>A
NM_001077401.2:c.625G>A
LRG_543:g.11656G>A
More... 		06/05/2019 missense variant likely pathogenic|uncertain significance Osler Weber Rendu syndrome type 2; Telangiectasia, hereditary hemorrhagic, type II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACVRL1
Accession:NM_001077401
Location:INTRON

Gene Symbol:ACVRL1
Accession:XM_047429901
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406494
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406495
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406489
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406487
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406493
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406488
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406492
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406491
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_000020
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406490
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001205846 CLINVAR
  RCV002356882 CLINVAR
dbSNP (RS) rs1940766958 CLINVAR
MedGen C1838163 CLINVAR
  CN230736 CLINVAR
NCBI Gene ACVRL1 CLINVAR
OMIM 600376 CLINVAR
  601284 CLINVAR