chr11:2570683:C>GG Detail (hg38) (KCNQ1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,591,913-2,591,913 View the variant detail on this assembly version. |
| hg38 | chr11:2,570,683-2,570,683 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000218.2:c.533delinsGG | NP_000209.2:p.Ala178GlyfsTer107 |
| NM_181798.1:c.152delinsGG | NP_861463.1:p.Ala51GlyfsTer107 | |
| Ensemble | ENST00000155840.12:c.533delinsGG | ENST00000155840.12:p.Ala178GlyfsTer107 |
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
|
2004-09-10 | no assertion criteria provided | long QT syndrome 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.573 | Romano-Ward Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000218.3(KCNQ1):c.533delinsGG (p.Ala178fs) AND Long QT syndrome 1 | 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
- rs397508115 dbSNP
- Genome
- hg38
- Position
- chr11:2,570,683-2,570,683
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- GG
Genome browser