Variant (rsID / SNP)

rs1800450

rs1800450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBL2. Location: chromosome 10, position 54,531,235. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MBL2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:54531235
Cytoband: 10q21.1
HGVS: NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)
Allele change: Missense_G54D

Associated conditions / phenotypes

Mannose-binding lectin 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.