Variant (rsID / SNP)
rs202094225
rs202094225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOGS. Location: chromosome 2, position 74,688,861. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MOGSConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:74688861
- Cytoband
- 2p13.1
- HGVS
- NM_006302.3(MOGS):c.2055T>C (p.Tyr685=)
- Allele change
- Synonymous_Y579Y
Associated conditions / phenotypes
MOGS-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.
