chr7:150947477:C>T Detail (hg38) (KCNH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,644,565-150,644,565 View the variant detail on this assembly version. |
| hg38 | chr7:150,947,477-150,947,477 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000238.3:c.3003G>A | NP_000229.1:p.Trp1001Ter |
| NM_172057.2:c.1983G>A | NP_742054.1:p.Trp661Ter | |
| Ensemble | ENST00000262186.10:c.3003G>A | ENST00000262186.10:p.Trp1001Ter |
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
|
2002-07-26 | no assertion criteria provided | long QT syndrome 2 |
germline
|
Detail |
|
Pathogenic
|
2019-06-13 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2019-08-16 | criteria provided, single submitter | long QT syndrome |
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.3003G>A (p.Trp1001Ter) AND Long QT syndrome 2 | ClinVar | Detail |
| NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) AND not provided | ClinVar | Detail |
| NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) AND Long QT syndrome | 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
- rs121912509 dbSNP
- Genome
- hg38
- Position
- chr7:150,947,477-150,947,477
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser