Variant: rs141142414 

    present in Gene: SLC26A4;SLC26A4-AS1
    present in Chromosome: 7
    Position on Chromosome: 107663427
    Alleles of this Variant: C/A;G;T

rs141142414 in SLC26A4;SLC26A4-AS1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT PMID 27771369 2017 Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

PMID 16570074 2006 SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.