Variant (rsID / SNP)

rs77146142

rs77146142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFX6. Location: chromosome 6, position 117,241,617. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RFX6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:117241617
Cytoband: 6q22.1
HGVS: NM_173560.4(RFX6):c.1327C>T (p.His443Tyr)
Allele change: Missense_H443Y

Associated conditions / phenotypes

Monogenic diabetes|Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

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.