chr11:2592635:T>G Detail (hg19) (KCNQ1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,592,635-2,592,635 |
| hg38 | chr11:2,571,405-2,571,405 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000218.2:c.683+2T>G | |
| NM_181798.1:c.302+2T>G | ||
| Ensemble | ENST00000155840.12:c.683+2T>G |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
long qt syndrome |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
long qt syndrome |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
no assertion criteria provided | long QT syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.417 | long QT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000218.3(KCNQ1):c.683+2T>G AND Long QT syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs796052166 dbSNP
- Genome
- hg19
- Position
- chr11:2,592,635-2,592,635
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser