Variant (rsID / SNP)

rs119103236

rs119103236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG3. Location: chromosome 3, position 183,963,079. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ALG3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:183963079
Cytoband: 3q27.1
HGVS: NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)
Allele change: Missense_R123Q

Associated conditions / phenotypes

ALG3-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.