chr12:6018443:G>A Detail (hg38) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,127,609-6,127,609 View the variant detail on this assembly version.
hg38 chr12:6,018,443-6,018,443

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.4975C>T NP_000543.2:p.Arg1659Ter
Ensemble ENST00000261405.10:c.4975C>T ENST00000261405.10:p.Arg1659Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv218962090 TogoVar
COSMIC COSM1990391 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
Pathogenic criteria provided, single submitter von Willebrand disease type 1 germline unknown Detail
Pathogenic 2022-10-02 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2022-07-19 criteria provided, single submitter Hereditary von Willebrand disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.589 von Willebrand Disease, Type 1 NA CLINVAR Detail
0.492 von Willebrand Disease, Type 3 NA CLINVAR Detail
0.492 von Willebrand Disease, Type 3 The patient with VWD was found positive for homozygous truncating mutation R1659... BeFree 20147343 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND von Willebrand disease type 3 ClinVar Detail
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND von Willebrand disease type 1 ClinVar Detail
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND not provided ClinVar Detail
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND Hereditary von Willebrand disease ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The patient with VWD was found positive for homozygous truncating mutation R1659X in VWF gene, and a... 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
rs61750595 dbSNP
Genome
hg38
Position
chr12:6,018,443-6,018,443
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8578
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
117958
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.629834347818716E-5
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