Variant (rsID / SNP)

rs121434331

rs121434331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN2B1. Location: chromosome 19, position 12,760,232. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MAN2B1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:12760232
Cytoband: 19p13.13
HGVS: NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
Allele change: Nonsense_R760X

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.