NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) AND Combined malonic and methylmalonic acidemia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000889113.9
Allele description [Variation Report for NM_001243279.3(ACSF3):c.1467G>C (p.Val489=)]
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=)
Condition(s)
-
BioProject Links for Protein (Select 725503307) (1)
BioProject
-
Danio rerio strain:Tuebingen
Danio rerio strain:TuebingenZebrafish reference genome sequenceBioProject
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024