Variant (rsID / SNP)

rs187892679

rs187892679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NGLY1. Location: chromosome 3, position 25,773,880. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NGLY1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:25773880
Cytoband: 3p24.2
HGVS: NM_018297.4(NGLY1):c.1355C>G (p.Pro452Arg)
Allele change: Missense_P434R

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.