chr12:6034818:T>C Detail (hg38) (VWF)

Information

Genome

Assembly Position
hg19 chr12:6,143,984-6,143,984 View the variant detail on this assembly version.
hg38 chr12:6,034,818-6,034,818

HGVS

Type Transcript Protein
RefSeq NM_000552.4:c.2555A>G NP_000543.2:p.Gln852Arg
Ensemble ENST00000261405.10:c.2555A>G ENST00000261405.10:p.Gln852Arg
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.827
ToMMo:0.795
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.798

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv44799614 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
Annotation

Annotations

DescrptionSourceLinks
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

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
-
Genome
hg38
Position
chr12:6,034,818-6,034,818
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1134
Mean of sample read depth (HGVD)
28.62
Standard deviation of sample read depth (HGVD)
19.40
Number of reference allele (HGVD)
393
Number of alternative allele (HGVD)
1874
Allele Frequency (HGVD)
0.8266431407146008
Gene Symbol (HGVD)
VWF
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs216321
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7947
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13319
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
6901
East Asian Heterozygous Counts (ExAC)
1441
East Asian Homozygous Counts (ExAC)
2730
East Asian Allele Frequency (ExAC)
0.7981725653481379
Chromosome Counts in All Race (ExAC)
121368
Allele Counts in All Race (ExAC)
109129
Heterozygous Counts in All Race (ExAC)
10891
Homozygous Counts in All Race (ExAC)
49119
Allele Frequency in All Race (ExAC)
0.8991579328982928
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