Variant (rsID / SNP)

rs121909731

rs121909731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLUD1. Location: chromosome 10, position 88,817,449. 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: 10:88817449
Cytoband: 10q23.2
HGVS: NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
Allele change: Missense_S331L

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.