Gene entry
SERAC1
serine active site containing 1
- Chromosome
- 6
- Cytoband
- 6q25.3
- Variants (rsID)
- 9
SERAC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q25.3). Its official name is “serine active site containing 1”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs201941476Conflicting interpretationssingle nucleotide variant3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
- rs199632531Pathogenicsingle nucleotide variant3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
- rs387907236Pathogenicsingle nucleotide variant3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
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.