Variant (rsID / SNP)

rs146081967

rs146081967 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFX6. Location: chromosome 6, position 117,248,343. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RFX6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:117248343
Cytoband: 6q22.1
HGVS: NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)
Allele change: Missense_T680K

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.