RGD:11615210 Rat Genome Database

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Variant: RGD:11615210 -  Homo sapiens

RGD ID: 11615210
RS ID: rs706818
ClinVar ID: CV333309
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVRL1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 52,315,237
GRCh38 12 51,921,453
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.*560T>C
LRG_543:g.19036T>C
NG_009549.1:g.19036T>C
NC_000012.12:g.51921453T>C
More... 		01/13/2018 3 prime utr variant 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:XM_047429901
Location:3UTRS;EXON

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

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

Gene Symbol:
Accession:
Location:3UTRS;EXON

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

Gene Symbol:ACVRL1
Accession:NM_001406491
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ACVRL1
Accession:NM_000020
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_001406495
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 RCV000283792 CLINVAR
  RCV004708276 CLINVAR
dbSNP (RS) rs706818 CLINVAR
MedGen C1838163 CLINVAR
  C3661900 CLINVAR
NCBI Gene ACVRL1 CLINVAR
OMIM 600376 CLINVAR
  601284 CLINVAR