chr12:32796150:GGTGTT>TTTC Detail (hg38) (PKP2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:32,949,084-32,949,089 View the variant detail on this assembly version. |
| hg38 | chr12:32,796,150-32,796,155 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004572.3:c.2443_2448delinsGAAA | NP_004563.2:p.Asn815GlufsTer11 |
| NM_001005242.2:c.2311_2316delinsGAAA | NP_001005242.2:p.Asn771GlufsTer11 | |
| Ensemble | ENST00000070846.11:c.2443_2448delinsGAAA | ENST00000070846.11:p.Asn815GlufsTer11 |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-06-29 | criteria provided, single submitter | long QT syndrome 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) 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
- rs786204395 dbSNP
- Genome
- hg38
- Position
- chr12:32,796,150-32,796,155
- Variant Type
- snv
- Reference Allele
- GGTGTT
- Alternative Allele
- TTTC
Genome browser