chr7:150655378:C>A Detail (hg19) (KCNH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,655,378-150,655,378 |
| hg38 | chr7:150,958,290-150,958,290 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000238.3:c.685G>T | NP_000229.1:p.Glu229Ter |
| Ensemble | ENST00000262186.10:c.685G>T | ENST00000262186.10:p.Glu229Ter |
| ENST00000713701.1:c.385G>T | ENST00000713701.1:p.Glu129Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2014-10-07 | no assertion criteria provided | long QT syndrome 2 |
germline
|
Detail |
|
Pathogenic
|
2016-09-09 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-09-26 | criteria provided, single submitter | long QT syndrome |
germline
|
Detail |
|
Pathogenic
|
2018-02-01 | criteria provided, single submitter |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.361 | long QT syndrome 2 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) AND Long QT syndrome 2 | ClinVar | Detail |
| NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) AND not provided | ClinVar | Detail |
| NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) AND Long QT syndrome | ClinVar | Detail |
| NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) AND Cardiovascular phenotype | 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
- rs730880116 dbSNP
- Genome
- hg19
- Position
- chr7:150,655,378-150,655,378
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser