NM_001005242.3(PKP2):c.2229dup (p.Leu744fs) AND Aborted sudden cardiac death
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001089639.1
Allele description [Variation Report for NM_001005242.3(PKP2):c.2229dup (p.Leu744fs)]
NM_001005242.3(PKP2):c.2229dup (p.Leu744fs)
Condition(s)
- Name:
- Aborted sudden cardiac death
- Identifiers:
- MedGen: C4703449; Human Phenotype Ontology: HP:0031628
-
Mus musculus
Mus musculusGenetic and Epigenetic Variation, but Not Diet, Shape the Sperm MethylomeBioProject
-
BioProject Links for BioSample (Select 4346873) (1)
BioProject
-
Genes with a similar H3K4me3 profile for Gene (Select 7745) (49)
Gene
-
ClinVar for Gene (Select 10668) (30)
ClinVar
-
coiled-coil domain-containing protein 130 homolog, partial [Morpho helenor]
coiled-coil domain-containing protein 130 homolog, partial [Morpho helenor]gi|2570901052|gb|WMK98888.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Nov 5, 2022