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Variant (rsID / SNP)

rs148572278

GLIS3

rs148572278 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLIS3. Location: chromosome 9, position 4,118,585. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GLIS3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:4118585
Cytoband
9p24.2
HGVS
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr)
Allele change
Missense_S298Y

Associated conditions / phenotypes

Neonatal diabetes mellitus with congenital hypothyroidism|Monogenic diabetes

Public references

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