Variant (rsID / SNP)

rs121908443

rs121908443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG6. Location: chromosome 1, position 63,885,051. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALG6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:63885051
Cytoband: 1p31.3
HGVS: NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
Allele change: Missense_A333V

Associated conditions / phenotypes

ALG6-congenital disorder of glycosylation 1C

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.