chr12:33049653:C> Detail (hg19) (PKP2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:33,049,653-33,049,653 |
hg38 | chr12:32,896,719-32,896,719 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001005242.2:c.13delG | NP_001005242.2:p.Gly5AlafsTer34 |
NM_004572.3:c.13delG | NP_004563.2:p.Gly5AlafsTer34 | |
Ensemble | ENST00000340811.9:c.13delG | ENST00000340811.9:p.Gly5AlafsTer34 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2012-11-20 | criteria provided, single submitter | arrhythmogenic right ventricular cardiomyopathy |
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Detail |
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2019-03-15 | criteria provided, single submitter | not provided |
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Detail |
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2017-09-12 | criteria provided, single submitter | Arrhythmogenic ventricular cardiomyopathy |
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Detail |
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2018-10-05 | criteria provided, single submitter | Cardiac arrhythmia |
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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.14del (p.Gly5fs) AND Arrhythmogenic right ventricular cardiomyopathy | ClinVar | Detail |
NM_001005242.3(PKP2):c.14del (p.Gly5fs) AND not provided | ClinVar | Detail |
NM_001005242.3(PKP2):c.14del (p.Gly5fs) AND Arrhythmogenic ventricular cardiomyopathy | ClinVar | Detail |
NM_001005242.3(PKP2):c.14del (p.Gly5fs) AND Cardiac arrhythmia | 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
- rs397516996 dbSNP
- Genome
- hg19
- Position
- chr12:33,049,653-33,049,653
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
Genome browser