NM_001136193.2(FASTKD2):c.601C>T (p.Arg201Cys) AND Combined oxidative phosphorylation deficiency 44
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489931.1
Allele description [Variation Report for NM_001136193.2(FASTKD2):c.601C>T (p.Arg201Cys)]
NM_001136193.2(FASTKD2):c.601C>T (p.Arg201Cys)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024