Variant (rsID / SNP)
rs114315130
rs114315130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX4. Location: chromosome 7, position 127,253,578. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PAX4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:127253578
- Cytoband
- 7q32.1
- HGVS
- NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)
- Allele change
- Missense_R183C
Associated conditions / phenotypes
Maturity onset diabetes mellitus in young
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.