Gene entry
LIPH
lipase H
- Chromosome
- 3
- Cytoband
- 3q27.2
- Variants (rsID)
- 15
LIPH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q27.2). Its official name is “lipase H”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs201249971Pathogenicsingle nucleotide variantWoolly hair, autosomal recessive 2, with or without hypotrichosis|Hypotrichosis 7|Hypotrichosis simplex
- rs201868115Pathogenicsingle nucleotide variantWoolly hair, autosomal recessive 2, with or without hypotrichosis
- rs267607219Pathogenicsingle nucleotide variantWoolly hair, autosomal recessive 2, with or without hypotrichosis
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.