Variant (rsID / SNP)

rs182869272

rs182869272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MANBA. Location: chromosome 4, position 103,553,381. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MANBAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:103553381
Cytoband: 4q24
HGVS: NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr)
Allele change: Missense_A825S

Associated conditions / phenotypes

Beta-D-mannosidosis

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.