chr12:6057953:G>C Detail (hg38) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,167,119-6,167,119 View the variant detail on this assembly version.
hg38 chr12:6,057,953-6,057,953

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.1625C>G NP_000543.2:p.Ala542Gly
Ensemble ENST00000261405.10:c.1625C>G ENST00000261405.10:p.Ala542Gly
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 tgv44800480 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-06-22 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter von Willebrand disease type 1,von Willebrand disease type 3,von Willebrand disease type 2 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter von Willebrand disease type 1,von Willebrand disease type 3,von Willebrand disease type 2 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter von Willebrand disease type 1,von Willebrand disease type 3,von Willebrand disease type 2 unknown Detail
Likely pathogenic 2019-02-01 criteria provided, single submitter Hereditary von Willebrand disease unknown Detail
Uncertain significance 2020-12-10 criteria provided, single submitter von Willebrand disease type 1 germline Detail
Pathogenic 2022-04-14 criteria provided, single submitter von Willebrand disease type 2 unknown Detail
Uncertain significance 2023-07-11 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-09-09 criteria provided, single submitter VWF-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND not provided ClinVar Detail
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND multiple conditions ClinVar Detail
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND multiple conditions ClinVar Detail
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND multiple conditions ClinVar Detail
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND Hereditary von Willebrand disease ClinVar Detail
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND von Willebrand disease type 1 ClinVar Detail
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND von Willebrand disease type 2 ClinVar Detail
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND not specified ClinVar Detail
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) AND VWF-related disorder ClinVar 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
rs141649383 dbSNP
Genome
hg38
Position
chr12:6,057,953-6,057,953
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8586
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)
119208
Allele Counts in All Race (ExAC)
54
Heterozygous Counts in All Race (ExAC)
54
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.529897322327361E-4
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