Variant (rsID / SNP)

rs201337954

rs201337954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NGLY1. Location: chromosome 3, position 25,775,422. Clinical significance in the table: Pathogenic.

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Reference-table entries

NGLY1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:25775422
Cytoband: 3p24.2
HGVS: NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
Allele change: Nonsense_R383X

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.