chr12:32994036:C>T Detail (hg19) (PKP2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:32,994,036-32,994,036 |
| hg38 | chr12:32,841,102-32,841,102 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004572.3:c.1614G>A | NP_004563.2:p.Trp538Ter |
| NM_001005242.2:c.1482G>A | NP_001005242.2:p.Trp494Ter | |
| Ensemble | ENST00000070846.11:c.1614G>A | ENST00000070846.11:p.Trp538Ter |
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 |
|---|---|---|---|---|---|
Likely pathogenic
|
2008-09-05 | no assertion criteria provided | arrhythmogenic right ventricular cardiomyopathy |
germline
|
Detail |
Pathogenic
|
2023-02-01 | criteria provided, multiple submitters, no conflicts | arrhythmogenic right ventricular dysplasia 9 |
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.1482G>A (p.Trp494Ter) AND Arrhythmogenic right ventricular cardiomyopathy | ClinVar | Detail |
| NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) AND Arrhythmogenic right ventricular dysplasia 9 | 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
- rs397517001 dbSNP
- Genome
- hg19
- Position
- chr12:32,994,036-32,994,036
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser