Variant (rsID / SNP)

rs193922472

rs193922472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF4A. Location: chromosome 20, position 43,042,375. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HNF4AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:43042375
Cytoband: 20q13.12
HGVS: NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
Allele change: Missense_S121G

Associated conditions / phenotypes

Maturity onset diabetes mellitus in young

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.