Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201791209

NGLY1

rs201791209 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NGLY1. Location: chromosome 3, position 25,778,897. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NGLY1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:25778897
Cytoband
3p24.2
HGVS
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)
Allele change
Missense_E311K

Associated conditions / phenotypes

Congenital disorder of deglycosylation|Neurodevelopmental delay

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.