Gene entry
ACSF3
acyl-CoA synthetase family member 3
- Chromosome
- 16
- Cytoband
- 16q24.3
- Variants (rsID)
- 23
ACSF3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q24.3). Its official name is “acyl-CoA synthetase family member 3”. The reference table lists 23 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs12447947Benignsynonymous_variantMethylmalonic Acidemia|Combined Malonic and Methylmalonic Aciduria|Isolated Methylmalonic Acidemia
- rs147597284Benignsingle nucleotide variantCombined malonic and methylmalonic acidemia
- rs3743979Benignmissense_variantMethylmalonic Acidemia|Combined Malonic and Methylmalonic Aciduria|Isolated Methylmalonic Acidemia
- rs138680796Conflicting interpretationssingle nucleotide variantCombined malonic and methylmalonic acidemia|Methylmalonic acidemia
- rs150487794Conflicting interpretationssingle nucleotide variantCombined malonic and methylmalonic acidemia|Methylmalonic acidemia
- rs202182978Likely pathogenicsingle nucleotide variant
- rs140986055Pathogenicsingle nucleotide variantCombined malonic and methylmalonic acidemia
- rs141090143Pathogenicsingle nucleotide variantCombined malonic and methylmalonic acidemia
- rs145583876Pathogenicsingle nucleotide variantCombined malonic and methylmalonic acidemia
- rs370382601Pathogenicsingle nucleotide variantCombined malonic and methylmalonic acidemia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.