Variant (rsID / SNP)

rs199682486

rs199682486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG6. Location: chromosome 1, position 63,868,019. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ALG6Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:63868019
Cytoband: 1p31.3
HGVS: NM_013339.4(ALG6):c.257+5G>A
Allele change: Silent

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.