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Variant (rsID / SNP)

rs138497710

GLIS3

rs138497710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLIS3. Location: chromosome 9, position 4,118,287. 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
9:4118287
Cytoband
9p24.2
HGVS
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His)
Allele change
Missense_Q397H

Associated conditions / phenotypes

Monogenic diabetes|Neonatal diabetes mellitus with congenital hypothyroidism

Public references

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