Gene entry
ANKLE2
ankyrin repeat and LEM domain containing 2
- Chromosome
- 12
- Cytoband
- 12q24.33
- Variants (rsID)
- 18
ANKLE2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.33). Its official name is “ankyrin repeat and LEM domain containing 2”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs201785518Pathogenicsingle nucleotide variantMicrocephaly 16, primary, autosomal recessive|Microcephaly
- rs117750374Uncertain significancesingle nucleotide variantMicrocephaly 16, primary, autosomal recessive
- rs1132375Not classifiedmissense_variant
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.