Variant (rsID / SNP)

rs121909734

rs121909734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLUD1. Location: chromosome 10, position 88,813,160. Clinical significance in the table: Pathogenic.

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Reference-table entries

GLUD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:88813160
Cytoband: 10q23.2
HGVS: NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)
Allele change: Missense_G332D

Associated conditions / phenotypes

Hyperinsulinism-hyperammonemia syndrome

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.