Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs754733253

MAN2B1

rs754733253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN2B1. Location: chromosome 19, position 12,758,295. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MAN2B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:12758295
Cytoband
19p13.13
HGVS
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
Allele change
Missense_G928R

Associated conditions / phenotypes

Deficiency of alpha-mannosidase

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.