Variant (rsID / SNP)

rs2866413

rs2866413 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MANBA. Location: chromosome 4, position 103,557,077. Clinical significance in the table: Benign.

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Reference-table entries

MANBABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:103557077
Cytoband: 4q24
HGVS: NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)
Allele change: Missense_T701M

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.