Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 c.1170+1G>A
(
ENST00000340811.9,
ENST00000700563.2,
ENST00000700564.2,
ENST00000070846.11,
ENST00000700559.2 )
PKP2 c.1170+1G>A ( ENST00000070846.11, ENST00000340811.9, ENST00000700559.2, ENST00000700563.2, ENST00000700564.2 ) - Associated Disease
- cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.1170+1G>A AND Cardiomyopathy
- ClinVar Allele ID
- 186425
- ClinVar RefSeq Alternation Syntax
- NM_001407158.1:c.843+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407162.1:c.843+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407159.1:c.843+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407157.1:c.1170+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.1170+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407161.1:c.1170+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407156.1:c.1170+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.1170+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407160.1:c.843+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407155.1:c.1170+1G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-03-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001798607
- ClinVar Disease
- Cardiomyopathy
- Observed Origin Sample
- germline
Drugs