Variant (rsID / SNP)

rs111033591

rs111033591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WNK1. Location: chromosome 12, position 977,863. Clinical significance in the table: Pathogenic.

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Reference-table entries

WNK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:977863
Cytoband: 12p13.33
HGVS: NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter)
Allele change: Nonsense_R1076X

Associated conditions / phenotypes

Neuropathy, hereditary sensory and autonomic, type 2A|Pseudohypoaldosteronism type 2C|Neuropathy, hereditary sensory and autonomic, type 2A

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.