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Variant (rsID / SNP)

rs200875721

ALG3

rs200875721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG3. Location: chromosome 3, position 183,963,575. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALG3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:183963575
Cytoband
3q27.1
HGVS
NM_005787.6(ALG3):c.222C>T (p.Tyr74=)
Allele change
Synonymous_Y26Y

Associated conditions / phenotypes

ALG3-congenital disorder of glycosylation

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.