NM_033337.3(CAV3):c.402G>A (p.Ala134=) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000769180.2
Allele description [Variation Report for NM_033337.3(CAV3):c.402G>A (p.Ala134=)]
NM_033337.3(CAV3):c.402G>A (p.Ala134=)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Homo sapiens clusterin like 1 (CLUL1), transcript variant 1, mRNA
Homo sapiens clusterin like 1 (CLUL1), transcript variant 1, mRNAgi|1973485589|ref|NM_014410.6|Nucleotide
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Last Updated: Oct 8, 2024