Variant (rsID / SNP)

rs193922470

rs193922470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF4A. Location: chromosome 20, position 43,057,098. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HNF4ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:43057098
Cytoband: 20q13.12
HGVS: NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
Allele change: Missense_C396S

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 1

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.