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Gene entry

MASP2

MBL associated serine protease 2

Chromosome
1
Cytoband
1p36.22
Variants (rsID)
17

MASP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.22). Its official name is “MBL associated serine protease 2”. The reference table lists 17 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs12142107Benignsingle nucleotide variantImmunodeficiency due to MASP-2 deficiency
  • rs144471433Benignsingle nucleotide variantImmunodeficiency due to MASP-2 deficiency
  • rs2273346Benignsingle nucleotide variantImmunodeficiency due to MASP-2 deficiency
  • rs41307788Benignsingle nucleotide variantImmunodeficiency due to MASP-2 deficiency
  • rs56392418Benignsingle nucleotide variantImmunodeficiency due to MASP-2 deficiency
  • rs61735593Conflicting interpretationssingle nucleotide variantImmunodeficiency due to MASP-2 deficiency
  • rs72550870Conflicting interpretationssingle nucleotide variantImmunodeficiency due to MASP-2 deficiency
  • rs141145402Uncertain significancesingle nucleotide variantImmunodeficiency due to MASP-2 deficiency
  • rs144632025Uncertain significancesingle nucleotide variantImmunodeficiency due to MASP-2 deficiency

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.