Variant (rsID / SNP)

rs199911532

rs199911532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG8. Location: chromosome 11, position 77,838,488. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALG8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:77838488
Cytoband: 11q14.1
HGVS: NM_024079.5(ALG8):c.96-6G>C
Allele change: Silent

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.