NM_003673.4(TCAP):c.460C>T (p.Arg154Cys) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000769483.2
Allele description [Variation Report for NM_003673.4(TCAP):c.460C>T (p.Arg154Cys)]
NM_003673.4(TCAP):c.460C>T (p.Arg154Cys)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
PREDICTED: Homo sapiens colony stimulating factor 2 receptor subunit alpha (CSF2...
PREDICTED: Homo sapiens colony stimulating factor 2 receptor subunit alpha (CSF2RA), transcript variant X3, mRNAgi|2217391094|ref|XM_047441846.1|Nucleotide
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Last Updated: Sep 1, 2024