Variant (rsID / SNP)

rs1133330

rs1133330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN2B1. Location: chromosome 19, position 12,772,090. Clinical significance in the table: Benign.

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Reference-table entries

MAN2B1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:12772090
Cytoband: 19p13.13
HGVS: NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
Allele change: Missense_R337Q

Associated conditions / phenotypes

Deficiency of alpha-mannosidase

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.