NM_001243279.3(ACSF3):c.749_750del (p.Val250fs) AND Combined malonic and methylmalonic acidemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466704.1
Allele description [Variation Report for NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)]
NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)
Condition(s)
-
Pure red-cell aplasia
Pure red-cell aplasiaMedGen
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023