NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) AND not provided
- Germline classification:
- Likely pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001580062.11
Allele description [Variation Report for NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)]
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Jun 2, 2024