TECTA

tectorin alpha

Summary

The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]

Known Variants931 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7359945511:120,973,064A/Cbenign
rs7961404511:120,973,274T/Clikely benign
rs5605828511:120,973,296A/Cbenign
rs14591627911:120,973,362T/Clikely benign
rs159143347511:120,973,403G/Clikely benign
rs14039350811:120,973,407C/Aconflicting classifications of pathogenicity
rs213504651611:120,973,410T/Guncertain significance
rs75646010811:120,973,419C/Tconflicting classifications of pathogenicity
rs213504654011:120,973,421C/Tuncertain significance
rs3550752211:120,973,430A/Glikely benign
rs55961090211:120,973,464C/Tlikely benign
rs5635841411:120,973,516C/Tbenign
rs11189787011:120,976,209A/Glikely benign
rs5568364011:120,976,311C/Abenign
rs68131111:120,976,413G/Abenign
rs50462611:120,976,428G/Abenign
rs11425649611:120,976,460G/Alikely benign
rs77491402411:120,976,521C/Tlikely benign
rs20117106411:120,976,526A/Gconflicting classifications of pathogenicity
rs55930634411:120,976,549G/Cuncertain significance
rs37324808311:120,976,555T/Cuncertain significance
rs249688604311:120,976,559G/Auncertain significance
rs57747072111:120,976,565A/Tconflicting classifications of pathogenicity
rs75077059911:120,976,588C/Tuncertain significance
rs194638550211:120,976,597T/Cuncertain significance
rs249688619911:120,976,615C/Guncertain significance
rs144431825911:120,976,616T/Alikely benign
rs37428915911:120,976,635C/Guncertain significance
rs213505027211:120,976,661C/Tlikely benign
rs87665801511:120,976,662C/Tuncertain significance
rs77861040011:120,976,667T/Clikely benign
rs19088484011:120,976,707G/Clikely benign
rs55961972811:120,979,616G/Clikely benign
rs11462610011:120,979,841C/Tlikely benign
rs141148053411:120,979,908T/Clikely benign
rs194642051611:120,979,910A/Glikely benign
rs37373641511:120,979,916G/Alikely benign
rs37305878811:120,979,917T/Clikely benign
rs194642075711:120,979,920G/Cuncertain significance
rs77970791911:120,979,931C/Tlikely benign
rs76826758611:120,979,948A/Guncertain significance
rs104549306511:120,979,950G/Tuncertain significance
rs213505481511:120,979,951T/Cuncertain significance
rs249689135611:120,979,953C/Guncertain significance
rs14206453911:120,979,961C/Tlikely benign
rs14589815811:120,979,969C/Tconflicting classifications of pathogenicity
rs77021496611:120,979,970G/Alikely benign
rs249689140811:120,979,981T/Guncertain significance
rs13864657411:120,980,007G/Cuncertain significance
rs75033042011:120,980,009C/Tlikely benign
rs75215952411:120,980,035A/Guncertain significance
rs75468518711:120,980,044G/Auncertain significance
rs72750483011:120,980,048C/Tconflicting classifications of pathogenicity
rs88604341211:120,980,057T/Cconflicting classifications of pathogenicity
rs75566717311:120,980,070A/Gbenign
rs37658188111:120,980,076C/Aconflicting classifications of pathogenicity
rs37068894711:120,980,079G/Tuncertain significance
rs249689162611:120,980,087G/Alikely benign
rs137871657211:120,980,098C/Tuncertain significance
rs14109015111:120,980,141T/Cuncertain significance
rs97306352611:120,980,151G/Auncertain significance
rs194642329711:120,980,169G/Cuncertain significance
rs194642332811:120,980,175G/Cuncertain significance
rs155512179911:120,980,179C/Tuncertain significance
rs127967923611:120,980,180G/Alikely benign
rs213505509211:120,980,191G/Auncertain significance
rs77738188911:120,980,201C/Glikely benign
rs20067297011:120,983,762G/Abenign
rs36862741111:120,983,774C/Glikely benign
rs159143751611:120,983,787A/Tuncertain significance
rs75678992711:120,983,788C/Tuncertain significance
rs124348551211:120,983,811G/Auncertain significance
rs127212970711:120,983,812A/Guncertain significance
rs37141422411:120,983,821A/Gconflicting classifications of pathogenicity
rs74732493711:120,983,822T/Cuncertain significance
rs88604783511:120,983,827T/Guncertain significance
rs76291242011:120,983,830C/Tuncertain significance
rs37428659311:120,983,831C/Glikely benign
rs37272391411:120,983,832C/Tuncertain significance
rs249689624211:120,983,839A/Guncertain significance
rs14836486511:120,983,846C/Tconflicting classifications of pathogenicity
rs86783682011:120,983,847G/Auncertain significance
rs77189907911:120,983,848A/Guncertain significance
rs76387213211:120,983,862A/Clikely pathogenic
rs75349399011:120,983,863C/Tconflicting classifications of pathogenicity
rs74990040411:120,983,871G/Auncertain significance
rs37218567311:120,983,879C/Tlikely benign
rs75196088211:120,983,880G/Auncertain significance
rs88604783611:120,983,882C/Tuncertain significance
rs213505946911:120,983,883G/Auncertain significance
rs72750345611:120,983,895G/Tuncertain significance
rs194645925611:120,983,905G/Auncertain significance
rs37510764711:120,983,907G/Cuncertain significance
rs77789591411:120,983,911T/Cuncertain significance
rs7359949211:120,983,929C/Glikely benign
rs229847811:120,984,087C/Gbenign
rs77662977411:120,984,248C/Tlikely benign
rs14200787911:120,984,258G/Tconflicting classifications of pathogenicity
rs76254444511:120,984,287C/Tuncertain significance
rs118069469411:120,984,302T/Cconflicting classifications of pathogenicity

Showing 100 of 931 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.