chr12:6018443:G>A Detail (hg38) (VWF)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:6,127,609-6,127,609 View the variant detail on this assembly version. |
hg38 | chr12:6,018,443-6,018,443 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000552.4:c.4975C>T | NP_000543.2:p.Arg1659Ter |
Ensemble | ENST00000261405.10:c.4975C>T | ENST00000261405.10:p.Arg1659Ter |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2020-11-01 | no assertion criteria provided | von Willebrand disease type 3 |
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Detail |
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criteria provided, single submitter | von Willebrand disease type 1 |
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Detail | |
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2022-10-02 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-07-19 | criteria provided, single submitter | Hereditary von Willebrand disease |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.589 | von Willebrand Disease, Type 1 | NA | CLINVAR | Detail | |
0.492 | von Willebrand Disease, Type 3 | NA | CLINVAR | Detail | |
0.492 | von Willebrand Disease, Type 3 | The patient with VWD was found positive for homozygous truncating mutation R1659... | BeFree | 20147343 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND von Willebrand disease type 3 | ClinVar | Detail |
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND von Willebrand disease type 1 | ClinVar | Detail |
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND not provided | ClinVar | Detail |
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) AND Hereditary von Willebrand disease | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The patient with VWD was found positive for homozygous truncating mutation R1659X in VWF gene, and a... | 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
- rs61750595 dbSNP
- Genome
- hg38
- Position
- chr12:6,018,443-6,018,443
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8578
- 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)
- 117958
- Allele Counts in All Race (ExAC)
- 9
- Heterozygous Counts in All Race (ExAC)
- 9
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 7.629834347818716E-5
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