Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Asn815GlufsTer11 (p.N815Efs*11)
(
ENST00000340811.9,
ENST00000700558.2,
ENST00000700559.2,
ENST00000070846.11,
ENST00000549461.3 )
PKP2 p.Asn815GlufsTer11 (p.N815Efs*11) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 ) - Associated Disease
- long QT syndrome 1
- Source Database
- ClinVar
- Description
- NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) AND Long QT syndrome 1
- ClinVar Allele ID
- 186419
- ClinVar RefSeq Alternation Syntax
- NM_001005242.3:c.2311_2316delinsGAAA
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-06-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000586198
- ClinVar Disease
- Long QT syndrome 1
- Observed Origin Sample
- germline
Drugs