RGD:11544616 Rat Genome Database

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Variant: RGD:11544616 -  Homo sapiens

RGD ID: 11544616
RS ID: rs11063962
ClinVar ID: CV254653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VWF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 6,076,781
GRCh38 12 5,967,615
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.5967615G>A
NC_000012.11:g.6076781G>A
NM_000552.3:c.7771-13C>T
LRG_587t1:c.7771-13C>T
More... 		06/14/2016 intron variant benign|likely benign AllHighlyPenetrant; Type 3 Von Willebrand's disease; Type 3 VWD; V WD3; Von Willebrand disease, recessive form; Von Willebrand disease, severe form; VON WILLEBRAND DISEASE, TYPE 2A/IIE; VON WILLEBRAND DISEASE, TYPE 2CB; VON WILLEBRAND DISEASE, TYPE I; VON WILLEBRAND DISEASE, TYPE II; VON WILLEBRAND DISEASE, TYPE III; VWD, TYPE 1; VWD, TYPE 2
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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000244027 CLINVAR
  RCV000278593 CLINVAR
  RCV002244061 CLINVAR
  RCV002244062 CLINVAR
  RCV002244063 CLINVAR
dbSNP (RS) rs11063962 CLINVAR
MedGen C1264039 CLINVAR
  C1264040 CLINVAR
  C1264041 CLINVAR
  C5703318 CLINVAR
  CN169374 CLINVAR
NCBI Gene VWF CLINVAR
OMIM 193400 CLINVAR
  277480 CLINVAR
  613160 CLINVAR
  613554 CLINVAR
SNOMED CT 128106003 CLINVAR
  128107007 CLINVAR
  128108002 CLINVAR