chr12:6046784:C>T Detail (hg38) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,155,950-6,155,950 View the variant detail on this assembly version.
hg38 chr12:6,046,784-6,046,784

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.2220G>A NP_000543.2:p.Met740Ile
Ensemble ENST00000261405.10:c.2220G>A ENST00000261405.10:p.Met740Ile
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 Benign Likely benign
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 tgv376879805 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2022-05-09 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Benign 2014-12-22 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Hereditary von Willebrand disease germline Detail
Benign 2021-12-05 criteria provided, single submitter 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
0.243 von Willebrand disease type 2M Factor VIII and von Willebrand factor changes after desmopressin and during preg... BeFree 16420565 Detail
<0.001 von Willebrand disease type 2M Factor VIII and von Willebrand factor changes after desmopressin and during preg... BeFree 16420565 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) AND not provided ClinVar Detail
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) AND not specified ClinVar Detail
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) AND Hereditary von Willebrand disease ClinVar Detail
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) AND von Willebrand disease type 1 ClinVar Detail
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) AND von Willebrand disease type 3 ClinVar Detail
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) AND von Willebrand disease type 2 ClinVar Detail
Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von... DisGeNET Detail
Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von... 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
rs2228317 dbSNP
Genome
hg38
Position
chr12:6,046,784-6,046,784
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8638
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)
121176
Allele Counts in All Race (ExAC)
2122
Heterozygous Counts in All Race (ExAC)
1780
Homozygous Counts in All Race (ExAC)
171
Allele Frequency in All Race (ExAC)
0.01751171849211065
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