Variant (rsID / SNP)

rs59172778

rs59172778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ1. Location: chromosome 11, position 128,709,126. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KCNJ1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:128709126
Cytoband: 11q24.3
HGVS: NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)
Allele change: Missense_M357T

Associated conditions / phenotypes

Bartter disease type 2

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.