Variant (rsID / SNP)
rs200888240
rs200888240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG8. Location: chromosome 11, position 77,838,457. Clinical significance in the table: Pathogenic.
Reference-table entries
ALG8Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:77838457
- Cytoband
- 11q14.1
- HGVS
- NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
- Allele change
- Nonsense_R41X
Associated conditions / phenotypes
ALG8 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.