NM_001130072.2(EPN1):c.1631C>T (p.Ala544Val) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004378097.1
Allele description [Variation Report for NM_001130072.2(EPN1):c.1631C>T (p.Ala544Val)]
NM_001130072.2(EPN1):c.1631C>T (p.Ala544Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal...
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2MedGen
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C4225312[conceptid] (1)
MedGen
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Last Updated: May 7, 2024