chr12:5969337:G>A Detail (hg38) (VWF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:6,078,503-6,078,503 View the variant detail on this assembly version. |
| hg38 | chr12:5,969,337-5,969,337 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000552.4:c.7603C>T | NP_000543.2:p.Arg2535Ter |
| Ensemble | ENST00000261405.10:c.7603C>T | ENST00000261405.10:p.Arg2535Ter |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2020-11-01 | no assertion criteria provided | von Willebrand disease type 3 |
germline
|
Detail |
|
Pathogenic
|
2020-06-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
|
Detail |
not provided
|
no assertion provided | Hereditary von Willebrand disease |
germline
|
Detail | |
|
Pathogenic
|
2020-12-10 | criteria provided, single submitter | von Willebrand disease type 1 |
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
| Descrption | Source | Links |
|---|---|---|
| NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) AND von Willebrand disease type 3 | ClinVar | Detail |
| NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) AND not provided | ClinVar | Detail |
| NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) AND Hereditary von Willebrand disease | ClinVar | Detail |
| NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) AND von Willebrand disease type 1 | 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
- rs61751296 dbSNP
- Genome
- hg38
- Position
- chr12:5,969,337-5,969,337
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8640
- 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)
- 121146
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4763508493883413E-5
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