Variant (rsID / SNP)

rs587777323

rs587777323 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOGS. Location: chromosome 2, position 74,691,832. Clinical significance in the table: Pathogenic.

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Reference-table entries

MOGSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:74691832
Cytoband: 2p13.1
HGVS: NM_006302.3(MOGS):c.370C>T (p.Gln124Ter)
Allele change: Nonsense_Q18X

Associated conditions / phenotypes

MOGS-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.