Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 c.2146-1G>C
(
ENST00000549461.3,
ENST00000070846.11,
ENST00000700559.2,
ENST00000700558.2,
ENST00000340811.9 )
PKP2 c.2146-1G>C ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 ) - Associated Disease
- PKP2-related disorder
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.2014-1G>C AND PKP2-related disorder
- ClinVar Allele ID
- 21795
- ClinVar RefSeq Alternation Syntax
- NM_001407155.1:c.2014-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407160.1:c.1687-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407156.1:c.1849-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407158.1:c.1687-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_004572.4:c.2146-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407159.1:c.1687-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.2014-1G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003924809
- ClinVar Disease
- PKP2-related disorder
- Observed Origin Sample
- germline
Drugs