Variant (rsID / SNP)

rs72550870

rs72550870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MASP2. Location: chromosome 1, position 11,106,666. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MASP2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:11106666
Cytoband: 1p36.22
HGVS: NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)
Allele change: Missense_D120G

Associated conditions / phenotypes

Immunodeficiency due to MASP-2 deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.