Variant (rsID / SNP)

rs104894245

rs104894245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ1. Location: chromosome 11, position 128,709,539. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNJ1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:128709539
Cytoband: 11q24.3
HGVS: NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg)
Allele change: Missense_S219R

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.