NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe) AND Methylmalonic acidemia with homocystinuria, type cblJ
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002659187.2
Allele description [Variation Report for NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)]
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024