RGD:11657622 Rat Genome Database

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Variant: RGD:11657622 -  Homo sapiens

RGD ID: 11657622
RS ID: rs886049746
ClinVar ID: CV318218
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VWF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 6,233,658
GRCh38 12 6,124,492
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_587t1:c.-72C>T
NC_000012.12:g.6124492G>A
NC_000012.11:g.6233658G>A
NM_000552.3:c.-72C>T
More... 		06/14/2016 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VWF
Accession:NM_000552
Location:5UTRS;EXON

Gene Symbol:VWF
Accession:XM_047429501
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000342837 CLINVAR
dbSNP (RS) rs886049746 CLINVAR
MedGen C5703318 CLINVAR
NCBI Gene VWF CLINVAR
OMIM 613160 CLINVAR