Variant (rsID / SNP)
rs137853066
rs137853066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNJ10. Location: chromosome 1, position 160,012,129. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNJ10Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:160012129
- Cytoband
- 1q23.2
- HGVS
- NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)
- Allele change
- Missense_R65P
Associated conditions / phenotypes
EAST syndrome|Bilateral sensorineural hearing impairment|Renal tubular dysfunction|Spastic diplegia|Microcephaly|Cerebellar ataxia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.