chr12:6034812:C>T Detail (hg38) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,143,978-6,143,978 View the variant detail on this assembly version.
hg38 chr12:6,034,812-6,034,812

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.2561G>A NP_000543.2:p.Arg854Gln
Ensemble ENST00000261405.10:c.2561G>A ENST00000261405.10:p.Arg854Gln
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 Likely 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 tgv276280893 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-11-04 criteria provided, multiple submitters, no conflicts von Willebrand disease type 2N germline Detail
Pathogenic 2022-05-04 criteria provided, multiple submitters, no conflicts von Willebrand disease type 1 germline Detail
Pathogenic 2024-02-06 criteria provided, multiple submitters, no conflicts not provided unknown germline not provided Detail
Pathogenic 2024-03-19 criteria provided, multiple submitters, no conflicts Hereditary von Willebrand disease germline unknown Detail
Pathogenic Likely pathogenic 2023-11-30 criteria provided, multiple submitters, no conflicts von Willebrand disease type 2 germline inherited unknown Detail
Pathogenic 2023-05-03 criteria provided, multiple submitters, no conflicts von Willebrand disease type 2,von Willebrand disease type 3,von Willebrand disease type 1 inherited unknown Detail
Pathogenic 2023-05-03 criteria provided, multiple submitters, no conflicts von Willebrand disease type 2,von Willebrand disease type 3,von Willebrand disease type 1 inherited unknown Detail
Pathogenic 2023-05-03 criteria provided, multiple submitters, no conflicts von Willebrand disease type 2,von Willebrand disease type 3,von Willebrand disease type 1 inherited unknown Detail
Likely pathogenic 2019-02-01 criteria provided, single submitter unknown Detail
Likely pathogenic 2020-05-01 no assertion criteria provided germline Detail
Pathogenic 2024-01-16 criteria provided, single submitter von Willebrand disorder germline Detail
Pathogenic 2024-02-02 criteria provided, single submitter VWF-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.246 von Willebrand Disease, Type 2N NA CLINVAR Detail
0.589 von Willebrand Disease, Type 1 NA CLINVAR Detail
0.246 von Willebrand Disease, Type 2N Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a no... BeFree 16953269 Detail
0.250 von Willebrand Disease The cause of this was subsequently shown to be the Normandy variant of type-2 vo... BeFree 15113383 Detail
0.250 von Willebrand Disease A patient with von Willebrand's disease characterized by a compound heterozygosi... BeFree 1581215 Detail
0.250 von Willebrand Disease NA CLINVAR Detail
0.368 von Willebrand Disease, Type 2 Identification of two point mutations in the von Willebrand factor gene of three... UNIPROT 1832934 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND von Willebrand disease type 2N ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND von Willebrand disease type 1 ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND not provided ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND Hereditary von Willebrand disease ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND von Willebrand disease type 2 ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND multiple conditions ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND multiple conditions ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND multiple conditions ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND Abnormality of coagulation ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND multiple conditions ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND von Willebrand disorder ClinVar Detail
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) AND VWF-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation a... DisGeNET Detail
The cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disea... DisGeNET Detail
A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitutio... DisGeNET Detail
NA DisGeNET Detail
Identification of two point mutations in the von Willebrand factor gene of three families with the '... 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
rs41276738 dbSNP
Genome
hg38
Position
chr12:6,034,812-6,034,812
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
121392
Allele Counts in All Race (ExAC)
374
Heterozygous Counts in All Race (ExAC)
374
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.00308092790299196
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