chr12:6044361:G>A Detail (hg38) (VWF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:6,153,527-6,153,527 View the variant detail on this assembly version. |
| hg38 | chr12:6,044,361-6,044,361 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000552.4:c.2372C>T | NP_000543.2:p.Thr791Met |
| Ensemble | ENST00000261405.10:c.2372C>T | ENST00000261405.10:p.Thr791Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2010-05-01 | no assertion criteria provided | von Willebrand disease type 2N |
germline
|
Detail |
not provided
|
no assertion provided | not provided |
not provided
|
Detail | |
|
Likely pathogenic
|
2019-02-01 | criteria provided, single submitter |
unknown
|
Detail | |
|
not provided
|
no assertion provided | Hereditary von Willebrand disease |
germline
|
Detail | |
|
Pathogenic
|
2020-12-10 | criteria provided, single submitter | von Willebrand disease type 2 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.246 | von Willebrand Disease, Type 2N | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000552.5(VWF):c.2372C>T (p.Thr791Met) AND von Willebrand disease type 2N | ClinVar | Detail |
| NM_000552.5(VWF):c.2372C>T (p.Thr791Met) AND not provided | ClinVar | Detail |
| NM_000552.5(VWF):c.2372C>T (p.Thr791Met) AND Abnormal bleeding | ClinVar | Detail |
| NM_000552.5(VWF):c.2372C>T (p.Thr791Met) AND Hereditary von Willebrand disease | ClinVar | Detail |
| NM_000552.5(VWF):c.2372C>T (p.Thr791Met) AND von Willebrand disease type 2 | 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
- rs61748477 dbSNP
- Genome
- hg38
- Position
- chr12:6,044,361-6,044,361
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser