Variant (rsID / SNP)

rs2273346

rs2273346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MASP2. Location: chromosome 1, position 11,090,897. Clinical significance in the table: Benign.

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Reference-table entries

MASP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:11090897
Cytoband: 1p36.22
HGVS: NM_006610.4(MASP2):c.1130T>C (p.Val377Ala)
Allele change: Missense_V377A

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.