Variant (rsID / SNP)

rs3824004

rs3824004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX4. Location: chromosome 7, position 127,253,551. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PAX4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:127253551
Cytoband: 7q32.1
HGVS: NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser)
Allele change: Missense_R192S

Associated conditions / phenotypes

Maturity onset diabetes mellitus in young|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.