NM_001351132.2(PEX5):c.543C>T (p.Thr181=) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 29, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000730677.8
Allele description [Variation Report for NM_001351132.2(PEX5):c.543C>T (p.Thr181=)]
NM_001351132.2(PEX5):c.543C>T (p.Thr181=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 9, 2023