chr12:32850765:C>G Detail (hg38) (PKP2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:33,003,699-33,003,699 View the variant detail on this assembly version. |
| hg38 | chr12:32,850,765-32,850,765 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004572.3:c.1378+1G>C | |
| NM_001005242.2:c.1378+1G>C | ||
| Ensemble | ENST00000070846.11:c.1378+1G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-12-15 | criteria provided, multiple submitters, no conflicts | arrhythmogenic right ventricular cardiomyopathy |
germline
|
Detail |
|
Pathogenic
|
2021-04-28 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-09-17 | criteria provided, single submitter |
germline
|
Detail | |
|
Pathogenic
|
2022-06-03 | criteria provided, single submitter | arrhythmogenic right ventricular dysplasia 9 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.163 | Arrhythmogenic Right Ventricular Dysplasia | NA | CLINVAR | Detail | |
| 0.360 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001005242.3(PKP2):c.1378+1G>C AND Arrhythmogenic right ventricular cardiomyopathy | ClinVar | Detail |
| NM_001005242.3(PKP2):c.1378+1G>C AND not provided | ClinVar | Detail |
| NM_001005242.3(PKP2):c.1378+1G>C AND Cardiovascular phenotype | ClinVar | Detail |
| NM_001005242.3(PKP2):c.1378+1G>C AND Arrhythmogenic right ventricular dysplasia 9 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs397516994 dbSNP
- Genome
- hg38
- Position
- chr12:32,850,765-32,850,765
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser