Variant (rsID / SNP)

rs121908340

rs121908340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG1. Location: chromosome 16, position 5,125,448. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:5125448
Cytoband: 16p13.3
HGVS: NM_019109.5(ALG1):c.450C>G (p.Ser150Arg)
Allele change: Missense_S150R

Associated conditions / phenotypes

ALG1-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.