chr7:150958059:C>G Detail (hg38) (KCNH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,655,147-150,655,147 View the variant detail on this assembly version. |
| hg38 | chr7:150,958,059-150,958,059 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000238.3:c.916G>C | NP_000229.1:p.Gly306Arg |
| Ensemble | ENST00000262186.10:c.916G>C | ENST00000262186.10:p.Gly306Arg |
| ENST00000713701.1:c.616G>C | ENST00000713701.1:p.Gly206Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Congenital long QT syndrome |
germline
|
Detail | |
Pathogenic
|
2014-08-15 | no assertion criteria provided | long QT syndrome 2 |
germline
|
Detail |
|
Likely pathogenic
|
2023-04-16 | criteria provided, single submitter | long QT syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.132 | Congenital long QT syndrome | NA | CLINVAR | Detail | |
| 0.361 | long QT syndrome 2 | NA | CLINVAR | Detail | |
| 0.388 | long QT syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) AND Congenital long QT syndrome | ClinVar | Detail |
| NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) AND Long QT syndrome 2 | ClinVar | Detail |
| NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) AND Long QT syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs199472884 dbSNP
- Genome
- hg38
- Position
- chr7:150,958,059-150,958,059
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser