Gene entry
MAN2B1
mannosidase alpha class 2B member 1
- Chromosome
- 19
- Cytoband
- 19p13.13
- Variants (rsID)
- 22
MAN2B1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.13). Its official name is “mannosidase alpha class 2B member 1”. The reference table lists 22 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs1133330Benignsingle nucleotide variantDeficiency of alpha-mannosidase
- rs34544747Benignsingle nucleotide variantDeficiency of alpha-mannosidase
- rs117843968Conflicting interpretationssingle nucleotide variantDeficiency of alpha-mannosidase
- rs572289342Conflicting interpretationsDuplicationDeficiency of alpha-mannosidase
- rs754733253Conflicting interpretationssingle nucleotide variantDeficiency of alpha-mannosidase
- rs121434331Pathogenicsingle nucleotide variantDeficiency of alpha-mannosidase
- rs370803545Pathogenicsingle nucleotide variantDeficiency of alpha-mannosidase
- rs398123457Pathogenicsingle nucleotide variantDeficiency of alpha-mannosidase
- rs775200333Pathogenicsingle nucleotide variantDeficiency of alpha-mannosidase
- rs80338677Pathogenicsingle nucleotide variantDeficiency of alpha-mannosidase|Inborn genetic diseases
- rs80338681Pathogenicsingle nucleotide variantDeficiency of alpha-mannosidase
- rs201140883Uncertain 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.