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Variant (rsID / SNP)

rs35383149

ALG6

rs35383149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG6. Location: chromosome 1, position 63,872,032. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALG6Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:63872032
Cytoband
1p31.3
HGVS
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
Allele change
Missense_Y131H

Associated conditions / phenotypes

ALG6-congenital disorder of glycosylation 1C

Public references

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