RGD:126910468 Rat Genome Database

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Variant: RGD:126910468 -  Homo sapiens

RGD ID: 126910468
RS ID: rs1944829900
ClinVar ID: CV1053613
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VWF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 6,184,499
GRCh38 12 6,075,333
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_587:g.54338T>C
NC_000012.12:g.6075333A>G
NM_000552.5:c.874+2T>C
NC_000012.11:g.6184499A>G
More...
11/01/2020 splice donor variant uncertain significance 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 Information

Database Acc Id Source(s)
ClinVar RCV001787186 CLINVAR
dbSNP (RS) rs1944829900 CLINVAR
MedGen C1264041 CLINVAR
NCBI Gene VWF CLINVAR
OMIM 277480 CLINVAR
  613160 CLINVAR
SNOMED CT 128108002 CLINVAR