chr7:150655572:C>T Detail (hg19) (KCNH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,655,572-150,655,572 |
| hg38 | chr7:150,958,484-150,958,484 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000238.3:c.491G>A | NP_000229.1:p.Arg164His |
| Ensemble | ENST00000262186.10:c.491G>A | ENST00000262186.10:p.Arg164His |
| ENST00000713701.1:c.191G>A | ENST00000713701.1:p.Arg64His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| 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 | |
|
Uncertain significance
|
2018-05-31 | criteria provided, multiple submitters, no conflicts | long QT syndrome 2 |
unknown
|
Detail |
|
Uncertain significance
|
2024-01-07 | criteria provided, single submitter | long QT syndrome |
germline
|
Detail |
|
Uncertain significance
|
2022-01-06 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Uncertain significance
|
2021-10-02 | criteria provided, single submitter | Short QT syndrome type 1,long QT syndrome 2 |
unknown
|
Detail |
|
Uncertain significance
|
2021-10-02 | criteria provided, single submitter | Short QT syndrome type 1,long QT syndrome 2 |
unknown
|
Detail |
|
Uncertain significance
|
2019-10-31 | criteria provided, single submitter |
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND Congenital long QT syndrome | ClinVar | Detail |
| NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND Long QT syndrome 2 | ClinVar | Detail |
| NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND Long QT syndrome | ClinVar | Detail |
| NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND not provided | ClinVar | Detail |
| NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND multiple conditions | ClinVar | Detail |
| NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND multiple conditions | ClinVar | Detail |
| NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND Cardiovascular phenotype | ClinVar | 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
- rs199472866 dbSNP
- Genome
- hg19
- Position
- chr7:150,655,572-150,655,572
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser