SERPINB6

serpin family B member 6

Summary

The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]

Known Variants145 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs727505227	6:2,948,535	C/T	—	likely benign
rs748043996	6:2,948,548	C/T	—	uncertain significance
rs192407835	6:2,948,551	C/A	—	uncertain significance
rs3188238	6:2,948,553	G/A	—	likely benign
rs760282663	6:2,948,566	C/T	—	uncertain significance
rs765798757	6:2,948,567	C/T	—	uncertain significance
rs145397970	6:2,948,568	G/A	—	likely benign
rs182270252	6:2,948,571	G/T	—	likely benign
rs2532533626	6:2,948,581	T/C	—	uncertain significance
rs748178838	6:2,948,610	G/A	—	likely benign
rs201048748	6:2,948,613	G/A	—	likely benign
rs1481084839	6:2,948,619	G/A	—	likely benign
rs774270238	6:2,948,621	G/A	—	uncertain significance
rs61737420	6:2,948,627	C/T	—	benign
rs760194824	6:2,948,641	C/T	—	conflicting classifications of pathogenicity
rs781438732	6:2,948,666	C/T	—	uncertain significance
rs147792064	6:2,948,667	G/A	—	likely benign
rs376116821	6:2,948,680	G/A	—	uncertain significance
rs1489213532	6:2,948,703	A/C	—	uncertain significance
rs550855004	6:2,948,717	C/T	—	uncertain significance
rs876657582	6:2,948,722	T/C	—	likely benign
rs201754754	6:2,948,762	C/T	—	uncertain significance
rs756395142	6:2,948,782	G/T	—	uncertain significance
rs2113093498	6:2,948,790	C/T	—	uncertain significance
rs1769379522	6:2,948,796	C/T	—	likely benign
rs566604967	6:2,948,803	C/T	—	uncertain significance
rs374321672	6:2,948,818	A/G	—	uncertain significance
rs1451542842	6:2,948,846	G/A	—	uncertain significance
rs151200580	6:2,948,847	C/T	—	likely benign
rs1294142999	6:2,948,848	G/A	—	uncertain significance
rs754009164	6:2,948,882	T/C	—	uncertain significance
rs758304446	6:2,948,893	G/A	—	uncertain significance
rs201678985	6:2,948,904	G/A	—	likely benign
rs35617833	6:2,948,913	G/A	—	conflicting classifications of pathogenicity
rs267607037	6:2,948,930	C/A	stop gained	pathogenic
rs1223476137	6:2,948,934	C/A	—	uncertain significance
rs746359002	6:2,948,947	G/A	—	likely benign
rs318426	6:2,948,965	T/C	—	benign
rs776896710	6:2,949,149	G/A	—	uncertain significance
rs187482841	6:2,949,152	C/T	—	benign
rs144895010	6:2,949,169	G/A	—	likely benign
rs111416638	6:2,949,172	C/G	—	likely benign
rs772585965	6:2,949,173	G/A	—	uncertain significance
rs1201327476	6:2,949,198	C/A	—	likely pathogenic
rs1410209674	6:2,949,246	T/C	—	uncertain significance
rs755523811	6:2,949,251	G/A	—	uncertain significance
rs9378746	6:2,949,387	A/G	—	benign
rs113727991	6:2,949,589	C/T	—	likely benign
rs2244693	6:2,953,252	C/T	—	benign
rs761614492	6:2,953,262	A/G	—	likely benign
rs201274381	6:2,953,312	T/A	—	uncertain significance
rs876657997	6:2,953,348	T/C	—	uncertain significance
rs776581052	6:2,953,356	A/G	—	likely benign
rs141773281	6:2,953,381	G/A	—	conflicting classifications of pathogenicity
rs727503416	6:2,953,391	A/C	—	conflicting classifications of pathogenicity
rs2295766	6:2,953,394	C/T	—	benign
rs764659148	6:2,953,396	G/A	—	uncertain significance
rs754405960	6:2,953,401	G/C	—	likely benign
rs2532596968	6:2,953,404	C/G	—	uncertain significance
rs201913568	6:2,953,410	C/T	—	conflicting classifications of pathogenicity
rs370453956	6:2,953,432	A/C	—	conflicting classifications of pathogenicity
rs3818276	6:2,953,445	G/A	—	benign
rs12209811	6:2,953,496	C/G	—	benign
rs73347833	6:2,953,560	C/T	—	benign
rs2295767	6:2,954,557	T/C	—	benign
rs2295768	6:2,954,602	C/T	—	benign
rs1040858	6:2,954,619	C/T	—	benign
rs201080069	6:2,954,823	C/T	—	conflicting classifications of pathogenicity
rs200861589	6:2,954,832	T/C	—	likely benign
rs1329989490	6:2,954,873	T/C	—	uncertain significance
rs146252067	6:2,954,877	C/T	—	conflicting classifications of pathogenicity
rs752725436	6:2,954,878	G/A	—	likely benign
rs368785463	6:2,954,880	C/T	—	uncertain significance
rs777702384	6:2,954,881	G/A	—	likely benign
rs267600931	6:2,954,893	A/G	—	likely benign
rs397516637	6:2,954,913	G/C	—	likely benign
rs968930117	6:2,954,928	A/G	—	uncertain significance
rs148530934	6:2,954,942	G/T	—	conflicting classifications of pathogenicity
rs370994947	6:2,954,948	G/C	—	conflicting classifications of pathogenicity
rs190603417	6:2,954,958	G/A	—	likely benign
rs1770231357	6:2,954,962	C/T	—	likely benign
rs148214258	6:2,954,970	T/C	—	benign
rs188632022	6:2,955,221	C/T	—	likely benign
rs146672242	6:2,955,222	G/A	—	likely benign
rs1964863	6:2,955,280	C/T	—	benign
rs6909276	6:2,955,437	C/A	—	likely benign
rs79588648	6:2,955,460	C/G	—	likely benign
rs1770356286	6:2,955,743	G/A	—	likely benign
rs181073094	6:2,955,748	T/G	—	likely benign
rs2113203054	6:2,955,780	T/C	—	uncertain significance
rs2295769	6:2,955,802	T/C	—	benign
rs764205718	6:2,955,818	C/A	—	likely benign
rs538616923	6:2,955,819	G/A	—	uncertain significance
rs35826070	6:2,955,830	G/A	—	benign
rs751225761	6:2,955,838	C/T	—	uncertain significance
rs571234750	6:2,955,839	G/A	—	likely benign
rs769353821	6:2,955,844	G/C	—	uncertain significance
rs947869732	6:2,955,849	G/A	—	uncertain significance
rs139696192	6:2,955,858	C/T	—	uncertain significance
rs1770382873	6:2,955,867	A/G	—	uncertain significance

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.