Gene entry
TAFAZZIN
tafazzin, phospholipid-lysophospholipid transacylase
- Chromosome
- X
- Cytoband
- Xq28
- Variants (rsID)
- 4
TAFAZZIN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “tafazzin, phospholipid-lysophospholipid transacylase”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs200405157Conflicting interpretationssingle nucleotide variant3-Methylglutaconic aciduria type 2
- rs62617809Conflicting interpretationssingle nucleotide variant3-Methylglutaconic aciduria type 2
- rs104894937Pathogenicsingle nucleotide variant3-Methylglutaconic aciduria type 2
- rs104894942Pathogenicsingle nucleotide variant3-Methylglutaconic aciduria type 2
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.