Gene entry
MAN1B1
mannosidase alpha class 1B member 1
- Chromosome
- 9
- Cytoband
- 9q34.3
- Variants (rsID)
- 18
MAN1B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.3). Its official name is “mannosidase alpha class 1B member 1”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs145477274Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Rafiq syndrome
- rs34355967Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Rafiq syndrome
- rs4880091Benignsingle nucleotide variantRafiq syndrome|History of neurodevelopmental disorder
- rs61744585Benignsingle nucleotide variantRafiq syndrome|History of neurodevelopmental disorder
- rs75639549Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Rafiq syndrome
- rs114057640Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Rafiq syndrome|Intellectual disability
- rs374963946Conflicting interpretationssingle nucleotide variantRafiq syndrome
- rs387906885Pathogenicsingle nucleotide variantRafiq syndrome
- rs200428790Uncertain significancesingle nucleotide variantHistory of neurodevelopmental disorder|Rafiq 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.