NM_000169.3(GLA):c.601T>G (p.Ser201Ala) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003486963.1
Allele description [Variation Report for NM_000169.3(GLA):c.601T>G (p.Ser201Ala)]
NM_000169.3(GLA):c.601T>G (p.Ser201Ala)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024