Gene entry
KNL1
kinetochore scaffold 1
- Chromosome
- 15
- Cytoband
- 15q15.1
- Variants (rsID)
- 21
KNL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q15.1). Its official name is “kinetochore scaffold 1”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs141726041Benignsingle nucleotide variantMicrocephaly 4, primary, autosomal recessive
- rs34758606Benignsingle nucleotide variantMicrocephaly 4, primary, autosomal recessive
- rs59648663Benignsingle nucleotide variantMicrocephaly 4, primary, autosomal recessive
- rs76098847Benignsingle nucleotide variantPrimary Microcephaly, Recessive
- rs8040502Benignsingle nucleotide variantPrimary Microcephaly, Recessive|Microcephaly 4, primary, autosomal recessive
- rs142872154Conflicting interpretationssingle nucleotide variantMicrocephaly 4, primary, autosomal recessive
- rs201037775Conflicting interpretationssingle nucleotide variantMicrocephaly 4, primary, autosomal recessive
- rs201853975Conflicting interpretationssingle nucleotide variantMicrocephaly 4, primary, autosomal recessive
- rs33931006Conflicting interpretationssingle nucleotide variantPrimary Microcephaly, Recessive
- rs200234622Uncertain significancesingle nucleotide 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.