chr12:6103650:G>A Detail (hg19) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,103,650-6,103,650
hg38 chr12:5,994,484-5,994,484 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.6187C>T NP_000543.2:p.Pro2063Ser
Ensemble ENST00000261405.10:c.6187C>T ENST00000261405.10:p.Pro2063Ser
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 Conflicting classifications of pathogenicity
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
Benign 2023-11-22 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Benign Likely benign 2016-03-28 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2019-11-29 criteria provided, conflicting interpretations Hereditary von Willebrand disease germline Detail
Benign Likely benign 2021-12-05 criteria provided, multiple submitters, no conflicts von Willebrand disease type 1 germline Detail
Benign 2021-12-05 criteria provided, single submitter von Willebrand disease type 3 germline Detail
Benign 2021-12-05 criteria provided, single submitter von Willebrand disease type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.492 von Willebrand Disease, Type 3 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) AND not provided ClinVar Detail
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) AND not specified ClinVar Detail
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) AND Hereditary von Willebrand disease ClinVar Detail
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) AND von Willebrand disease type 1 ClinVar Detail
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) AND von Willebrand disease type 3 ClinVar Detail
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) AND von Willebrand disease type 2 ClinVar Detail
NA 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
rs61750615 dbSNP
Genome
hg19
Position
chr12:6,103,650-6,103,650
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121410
Allele Counts in All Race (ExAC)
1545
Heterozygous Counts in All Race (ExAC)
1467
Homozygous Counts in All Race (ExAC)
39
Allele Frequency in All Race (ExAC)
0.012725475660983445
Genome browser