chr12:33003807:A>G Detail (hg19) (PKP2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:33,003,807-33,003,807 |
| hg38 | chr12:32,850,873-32,850,873 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004572.3:c.1271T>C | NP_004563.2:p.Phe424Ser |
| NM_001005242.2:c.1271T>C | NP_001005242.2:p.Phe424Ser | |
| Ensemble | ENST00000070846.11:c.1271T>C | ENST00000070846.11:p.Phe424Ser |
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
|
2009-05-18 | no assertion criteria provided | arrhythmogenic right ventricular cardiomyopathy |
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.1271T>C (p.Phe424Ser) AND Arrhythmogenic right ventricular cardiomyopathy | 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
- rs397516990 dbSNP
- Genome
- hg19
- Position
- chr12:33,003,807-33,003,807
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser