Variant (rsID / SNP)

rs886047379

rs886047379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLUD1. Location: chromosome 10, position 88,854,570. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GLUD1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:88854570
Cytoband: 10q23.2
HGVS: NM_005271.5(GLUD1):c.-44C>T
Allele change: Silent

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.