Variant (rsID / SNP)

rs369160589

rs369160589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG1. Location: chromosome 16, position 5,132,677. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ALG1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:5132677
Cytoband: 16p13.3
HGVS: NM_019109.5(ALG1):c.1187+3A>G
Allele change: Silent

Associated conditions / phenotypes

ALG1-congenital disorder of glycosylation|Congenital disorder of glycosylation|Encephalopathy

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.