RGD:14975573 Rat Genome Database

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Variant: RGD:14975573 -  Homo sapiens

RGD ID: 14975573
RS ID: rs1591871882
ClinVar ID: CV615736
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VWF  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 6,140,751
GRCh38 12 6,031,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000552.3:c.2686-7T>G
LRG_587t1:c.2686-7T>G
NM_000552.5:c.2686-7T>G
LRG_587:g.98086T>G
More... 		02/01/2019 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VWF
Accession:NM_000552
Location:INTRON

Gene Symbol:VWF
Accession:XM_047429501
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000851753 CLINVAR
dbSNP (RS) rs1591871882 CLINVAR
MedGen C5703318 CLINVAR
NCBI Gene VWF CLINVAR
OMIM 613160 CLINVAR