RGD:11622530 Rat Genome Database

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Variant: RGD:11622530 -  Homo sapiens

RGD ID: 11622530
RS ID: rs2293092
ClinVar ID: CV331852
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVRL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 52,317,075
GRCh38 12 51,923,291
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_543t1:c.*2398G>A
LRG_543:g.20874G>A
NG_009549.1:g.20874G>A
NC_000012.12:g.51923291G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign childhood 1:10,000 none provided; 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_001406491
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001406490
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001077401
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001406487
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001406495
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:XM_047429901
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001406492
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001406494
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_000020
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001406488
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406493
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406489
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000361679 CLINVAR
  RCV004708280 CLINVAR
dbSNP (RS) rs2293092 CLINVAR
MedGen C1838163 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACVRL1 CLINVAR
OMIM 600376 CLINVAR
  601284 CLINVAR