Gene entry
MKKS
MKKS centrosomal shuttling protein
- Chromosome
- 20
- Cytoband
- 20p12.2
- Variants (rsID)
- 18
MKKS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p12.2). Its official name is “MKKS centrosomal shuttling protein”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs145045986Benignsingle nucleotide variantBardet-Biedl syndrome|McKusick-Kaufman syndrome|McKusick-Kaufman syndrome|Bardet-Biedl syndrome 6
- rs150920905Benignsingle nucleotide variantBardet-Biedl syndrome|McKusick-Kaufman syndrome|Bardet-Biedl syndrome 6|McKusick-Kaufman syndrome
- rs201785599Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|McKusick-Kaufman syndrome|McKusick-Kaufman syndrome|Bardet-Biedl syndrome 6
- rs28937875Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 6|McKusick-Kaufman syndrome|Bardet-Biedl syndrome
- rs74315394Conflicting interpretationssingle nucleotide variantMcKusick-Kaufman syndrome|McKusick-Kaufman syndrome|Bardet-Biedl syndrome
- rs74315398Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 6|Inborn genetic diseases|Bardet-Biedl syndrome|McKusick-Kaufman syndrome
- rs281797258Pathogenicsingle nucleotide variantBardet-Biedl syndrome|McKusick-Kaufman syndrome
- rs74315396Pathogenicsingle nucleotide variantMcKusick-Kaufman syndrome|Bardet-Biedl syndrome 6|Bardet-biedl syndrome 2/6, digenic|Bardet-Biedl syndrome 6|McKusick-Kaufman syndrome|McKusick-Kaufman syndrome|Bardet-Biedl syndrome|Retinal dystrophy|Inborn genetic diseases|Nephronophthisis|Bardet-Biedl syndrome
- rs74315399Pathogenicsingle nucleotide variantBardet-Biedl syndrome 6|McKusick-Kaufman syndrome|Bardet-Biedl syndrome|McKusick-Kaufman syndrome
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.
