Variant (rsID / SNP)

rs121908023

rs121908023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG9. Location: chromosome 11, position 111,724,138. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALG9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:111724138
Cytoband: 11q23.1
HGVS: NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)
Allele change: Missense_Y116C

Associated conditions / phenotypes

ALG9 congenital disorder of glycosylation

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.