Variant (rsID / SNP)

rs146131512

rs146131512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLIS3. Location: chromosome 9, position 4,118,393. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GLIS3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:4118393
Cytoband: 9p24.2
HGVS: NM_001042413.2(GLIS3):c.1085C>A (p.Pro362Gln)
Allele change: Missense_P362Q

Associated conditions / phenotypes

Monogenic diabetes|Neonatal diabetes mellitus with congenital hypothyroidism

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.