Variant (rsID / SNP)
rs137853071
rs137853071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ10. Location: chromosome 1, position 160,011,434. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNJ10Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:160011434
- Cytoband
- 1q23.2
- HGVS
- NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)
- Allele change
- Missense_R297C
Associated conditions / phenotypes
EAST syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.