Gene entry
FA2H
fatty acid 2-hydroxylase
- Chromosome
- 16
- Cytoband
- 16q23.1
- Variants (rsID)
- 24
FA2H is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q23.1). Its official name is “fatty acid 2-hydroxylase”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs11554620Benignsingle nucleotide variantHereditary spastic paraplegia 35|Spastic paraplegia|Hereditary spastic paraplegia
- rs11554621Benignsingle nucleotide variantHereditary spastic paraplegia 35|Spastic paraplegia|Hereditary spastic paraplegia
- rs138244546Benignsingle nucleotide variantHereditary spastic paraplegia 35|Spastic paraplegia
- rs6564160Benignsingle nucleotide variantHereditary spastic paraplegia 35|Spastic paraplegia|Hereditary spastic paraplegia
- rs147632811Conflicting interpretationssingle nucleotide variantSpastic paraplegia|Hereditary spastic paraplegia 35|Hereditary spastic paraplegia
- rs387907040Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 35
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.
