NM_000318.3(PEX2):c.551G>T (p.Cys184Phe) AND not provided
- 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:
- RCV000729856.4
Allele description [Variation Report for NM_000318.3(PEX2):c.551G>T (p.Cys184Phe)]
NM_000318.3(PEX2):c.551G>T (p.Cys184Phe)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 1, 2023