rs886045409

This variant is located in the KCNJ10 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Nonsyndromic Hearing Loss, Mixed; Pendred syndrome; EAST syndrome

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…