NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) AND Glutaric acidemia type 2C
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 2, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001831952.9
Allele description [Variation Report for NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)]
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
Condition(s)
- Name:
- Glutaric acidemia type 2C
- Identifiers:
Assertion and evidence details
Last Updated: Nov 10, 2024