Variant (rsID / SNP)

rs57924353

rs57924353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFX6. Location: chromosome 6, position 117,248,673. Clinical significance in the table: Likely benign.

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Reference-table entries

RFX6Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:117248673
Cytoband: 6q22.1
HGVS: NM_173560.4(RFX6):c.2369G>A (p.Gly790Glu)
Allele change: Missense_G790E

Associated conditions / phenotypes

Monogenic diabetes

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.