Variant (rsID / SNP)
rs56030257
rs56030257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNK4. Location: chromosome 17, position 40,940,172. Clinical significance in the table: Benign.
Reference-table entries
WNK4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:40940172
- Cytoband
- 17q21.2
- HGVS
- NM_032387.5(WNK4):c.1888T>C (p.Ser630Pro)
- Allele change
- Missense_S294P
Associated conditions / phenotypes
Pseudohypoaldosteronism type 2B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.