Variant (rsID / SNP)

rs115923648

rs115923648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX4. Location: chromosome 7, position 127,255,034. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PAX4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:127255034
Cytoband: 7q32.1
HGVS: NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)
Allele change: Missense_R79Q

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.