rs773976668

This variant is located in the KCNJ10 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

EAST syndrome; Autosomal recessive nonsyndromic hearing loss 4

About KCNJ10

This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]

View all KCNJ10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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