Variant (rsID / SNP)

rs61995925

rs61995925 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG8. Location: chromosome 11, position 77,823,791. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALG8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:77823791
Cytoband: 11q14.1
HGVS: NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)
Allele change: Missense_R268Q

Associated conditions / phenotypes

ALG8 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.