Variant (rsID / SNP)

rs587776982

rs587776982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NGLY1. Location: chromosome 3, position 25,761,025. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NGLY1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 3:25761025
Cytoband: 3p24.2
HGVS: NM_018297.4(NGLY1):c.1891del (p.Gln631fs)

Associated conditions / phenotypes

Congenital disorder of deglycosylation

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.