chr11:46760876:G>T Detail (hg19) (F2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:46,760,876-46,760,876 |
| hg38 | chr11:46,739,326-46,739,326 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000506.4:c.1787G>T | NP_000497.1:p.Arg596Leu |
| NM_001311257.1:c.1787G>T | NP_001298186.1:p.Arg596Leu | |
| Ensemble | ENST00000530231.5:c.1670G>T | ENST00000530231.5:p.Arg557Leu |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2012-06-21 | no assertion criteria provided | thrombophilia due to thrombin defect |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.427 | thrombophilia | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000506.5(F2):c.1787G>T (p.Arg596Leu) AND Thrombophilia due to thrombin defect | 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
- rs387907201 dbSNP
- Genome
- hg19
- Position
- chr11:46,760,876-46,760,876
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser