NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Oct 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001185008.15
Allele description [Variation Report for NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)]
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
WD repeat-containing protein 25 isoform a [Homo sapiens]
WD repeat-containing protein 25 isoform a [Homo sapiens]gi|241896935|ref|NP_078791.3|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024