chr12:6132055:C>A Detail (hg19) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,132,055-6,132,055
hg38 chr12:6,022,889-6,022,889 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.3389G>T NP_000543.2:p.Cys1130Phe
Ensemble ENST00000261405.10:c.3389G>T ENST00000261405.10:p.Cys1130Phe
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 2023-04-09 criteria provided, single submitter not provided not provided unknown Detail
Uncertain significance 2022-04-26 no assertion criteria provided von Willebrand disease type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.250 von Willebrand Disease It was the aim of the present study to prospectively evaluate clinical events of... BeFree 21264446 Detail
0.589 von Willebrand Disease, Type 1 Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F)... BeFree 10792299 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) AND not provided ClinVar Detail
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) AND von Willebrand disease type 2 ClinVar Detail
It was the aim of the present study to prospectively evaluate clinical events of 60 heterozygous pat... DisGeNET Detail
Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von W... 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
rs267607324 dbSNP
Genome
hg19
Position
chr12:6,132,055-6,132,055
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser