chr12:5981988:C>A Detail (hg38) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,091,154-6,091,154 View the variant detail on this assembly version.
hg38 chr12:5,981,988-5,981,988

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.7085G>T NP_000543.2:p.Cys2362Phe
Ensemble ENST00000261405.10:c.7085G>T ENST00000261405.10:p.Cys2362Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 613160 OMIM
HGNC 12726 HGNC
Ensembl ENSG00000110799 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-11-01 no assertion criteria provided von Willebrand disease type 3 germline Detail
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.492 von Willebrand Disease, Type 3 NA CLINVAR Detail
0.250 von Willebrand Disease VWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from... BeFree 23446343 Detail
0.250 von Willebrand Disease Homozygous C2362F von Willebrand factor induces intracellular retention of mutan... BeFree 16643449 Detail
0.250 von Willebrand Disease Heightened proteolysis of the von Willebrand factor subunit in patients with von... BeFree 10651743 Detail
0.004 von Willebrand Disease VWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from... BeFree 23446343 Detail
0.250 von Willebrand Disease A novel null mutation (2908del C in exon 22) of the von Willebrand factor (VWF) ... BeFree 17109387 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) AND von Willebrand disease type 3 ClinVar Detail
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) AND not provided ClinVar Detail
NA DisGeNET Detail
VWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from a patient with von ... DisGeNET Detail
Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand fac... DisGeNET Detail
Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease ... DisGeNET Detail
VWF-enriched blood samples, obtained by cryoethanol precipitation of plasma from a patient with von ... DisGeNET Detail
A novel null mutation (2908del C in exon 22) of the von Willebrand factor (VWF) gene was identified ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs61750630 dbSNP
Genome
hg38
Position
chr12:5,981,988-5,981,988
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser