Genetics University — Research, Education, Medical Genetics
Knowledge Hub

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.