NM_000169.3(GLA):c.616C>T (p.Leu206Phe) AND Primary familial hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 30, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000624681.3
Allele description [Variation Report for NM_000169.3(GLA):c.616C>T (p.Leu206Phe)]
NM_000169.3(GLA):c.616C>T (p.Leu206Phe)
Condition(s)
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Epameibaphis sp. BIOUG213...
cytochrome oxidase subunit 1, partial (mitochondrion) [Epameibaphis sp. BIOUG21326-F05]gi|1398211316|gb|AWS07669.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024