Pendred Syndrome
From SNPedia
Pendred Syndrome is a genetic disorder leading to bilateral hearing loss. It is most commonly caused by autosomal recessive mutations in the SLC26A4 gene on chromosome 7. Wikipedia
In SNPedia, SNPs from the SLC26A4 gene associated with Pendred Syndrome include:
- rs80338848 or i5012616: L236P, T to C
- rs111033244 or i5000003: E384G, A to G
- rs28939086 or i5012618: T416P, A to C
- rs111033199 or i5000693: V138F, G to T
- rs121908362 or i5000002: H723R, A to G
- rs111033307 or i5000696: L445W, T to G
