NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=) AND Combined malonic and methylmalonic acidemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002126322.5
Allele description [Variation Report for NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=)]
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=)
Condition(s)
-
Chain B, THYMIDINE KINASE
Chain B, THYMIDINE KINASEgi|49258344|pdb|1OF1|BProtein
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Last Updated: Feb 28, 2024