RGD:14975769 Rat Genome Database

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Variant: RGD:14975769 -  Homo sapiens

RGD ID: 14975769
RS ID: rs746457842
ClinVar ID: CV615735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VWF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,128,910
GRCh38 12 6,019,744
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000552.5:c.3675-1G>A
LRG_587:g.109927G>A
NG_009072.2:g.109927G>A
NM_000552.3:c.3675-1G>A
More... 		02/01/2019 splice acceptor variant likely pathogenic 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 III
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 RCV001787111 CLINVAR
dbSNP (RS) rs746457842 CLINVAR
MedGen C1264041 CLINVAR
NCBI Gene VWF CLINVAR
OMIM 277480 CLINVAR
  613160 CLINVAR
SNOMED CT 128108002 CLINVAR