RGD:151349670 Rat Genome Database

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Variant: RGD:151349670 -  Homo sapiens

RGD ID: 151349670
RS ID: rs568206326
ClinVar ID: CV1321566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVRL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 52,313,684
GRCh38 12 51,919,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000020.3:c.1377+785G>A
NM_001077401.2:c.1377+785G>A
NC_000012.12:g.51919900G>A
NC_000012.11:g.52313684G>A
More... 		02/10/2021 intron variant likely benign 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_001406488
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001406489
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_001406493
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_000020
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406491
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
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:ACVRL1
Accession:NM_001406487
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406490
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001077401
Location:INTRON

Gene Symbol:ACVRL1
Accession:NM_001406492
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001802548 CLINVAR
dbSNP (RS) rs568206326 CLINVAR
MedGen C1838163 CLINVAR
NCBI Gene ACVRL1 CLINVAR
OMIM 600376 CLINVAR
  601284 CLINVAR