Gene entry
KCNJ10
potassium inwardly rectifying channel subfamily J member 10
- Chromosome
- 1
- Cytoband
- 1q23.2
- Variants (rsID)
- 18
KCNJ10 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q23.2). Its official name is “potassium inwardly rectifying channel subfamily J member 10”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs1130183Benignsingle nucleotide variantEAST syndrome|History of neurodevelopmental disorder|Autosomal recessive nonsyndromic hearing loss 4
- rs115466046Conflicting interpretationssingle nucleotide variantEAST syndrome|History of neurodevelopmental disorder|Seizure|Autism|Intellectual disability
- rs137853074Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|EAST syndrome|KCNJ10-Related Disorders
- rs138943405Conflicting interpretationssingle nucleotide variantEAST syndrome|KCNJ10-Related Disorders|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|EAST syndrome
- rs141553756Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|EAST syndrome|Autosomal recessive nonsyndromic hearing loss 4|Seizure|Intellectual disability
- rs142228240Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|EAST syndrome
- rs137853066Pathogenicsingle nucleotide variantEAST syndrome|Bilateral sensorineural hearing impairment|Renal tubular dysfunction|Spastic diplegia|Microcephaly|Cerebellar ataxia
- rs137853071Pathogenicsingle nucleotide variantEAST syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.