DIABLO

diablo IAP-binding mitochondrial protein

Summary

This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

Known Variants99 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4758675	12:122,691,738	C/A	synonymous variant	—
rs12870	12:122,692,820	C/T	—	benign
rs559000145	12:122,692,850	C/T	—	likely benign
rs7294427	12:122,692,874	A/G	—	benign
rs2547123498	12:122,692,930	A/G	—	likely pathogenic
rs551079634	12:122,692,938	C/T	—	uncertain significance
rs373789053	12:122,692,939	G/A	—	uncertain significance
rs35426428	12:122,692,958	C/T	—	benign
rs769655007	12:122,692,959	G/A	—	uncertain significance
rs1034009948	12:122,692,973	C/T	—	likely benign
rs150199226	12:122,692,978	C/T	—	likely benign
rs1223091168	12:122,692,988	T/C	—	likely benign
rs756842203	12:122,693,021	T/C	—	likely benign
rs2547123825	12:122,693,034	T/G	—	uncertain significance
rs1343006878	12:122,693,037	G/A	—	uncertain significance
rs138784666	12:122,693,043	C/T	—	conflicting classifications of pathogenicity
rs375537524	12:122,693,044	G/A	—	uncertain significance
rs764647908	12:122,693,055	T/C	—	conflicting classifications of pathogenicity
rs372445889	12:122,693,081	C/T	—	likely benign
rs149387774	12:122,693,102	G/A	—	likely benign
rs753638530	12:122,693,123	G/A	—	likely benign
rs535135642	12:122,693,144	T/G	—	likely benign
rs60573343	12:122,693,379	A/G	—	benign
rs74759407	12:122,694,283	G/A	—	likely benign
rs182277781	12:122,694,337	T/C	—	benign
rs75632349	12:122,695,128	A/G	downstream gene variant	—
rs76932423	12:122,700,885	T/C	—	benign
rs2271411	12:122,701,001	T/A	—	benign
rs190518526	12:122,701,002	A/T	—	likely benign
rs1366697557	12:122,701,039	T/G	—	uncertain significance
rs779372275	12:122,701,055	G/A	—	uncertain significance
rs1954215367	12:122,701,074	C/A	—	uncertain significance
rs994617815	12:122,701,084	C/T	—	uncertain significance
rs7952820	12:122,701,203	G/T	—	benign
rs755662260	12:122,701,286	G/A	—	likely benign
rs2136096053	12:122,701,290	A/C	—	likely benign
rs914932075	12:122,701,291	G/C	—	likely benign
rs1469108529	12:122,701,305	C/A	—	uncertain significance
rs759692888	12:122,701,338	C/T	—	conflicting classifications of pathogenicity
rs1400208384	12:122,701,348	C/T	—	likely benign
rs387906893	12:122,701,355	G/A	missense variant	pathogenic
rs764412748	12:122,701,383	A/G	—	uncertain significance
rs137928955	12:122,701,424	T/C	—	likely benign
rs192119948	12:122,701,517	A/G	—	likely benign
rs142026051	12:122,701,634	A/G	—	likely benign
rs60995900	12:122,701,674	T/A	—	benign
rs370571609	12:122,702,807	A/T	—	conflicting classifications of pathogenicity
rs2547135982	12:122,702,817	G/A	—	uncertain significance
rs746807208	12:122,702,827	T/C	—	uncertain significance
rs876657775	12:122,702,837	A/C	—	uncertain significance
rs144568281	12:122,702,843	C/T	—	likely benign
rs1312482444	12:122,702,857	G/C	—	uncertain significance
rs116496131	12:122,702,859	G/C	—	conflicting classifications of pathogenicity
rs879608440	12:122,702,873	G/A	—	likely benign
rs2547136107	12:122,702,878	T/C	—	uncertain significance
rs763349592	12:122,702,884	T/C	—	uncertain significance
rs147316018	12:122,702,888	C/G	—	uncertain significance
rs373344824	12:122,702,900	T/C	—	likely benign
rs2547136185	12:122,702,906	C/T	—	uncertain significance
rs1566025862	12:122,702,909	C/G	—	uncertain significance
rs189391249	12:122,702,944	T/C	—	uncertain significance
rs370435244	12:122,702,961	T/C	—	likely benign
rs7963565	12:122,703,014	C/T	—	benign
rs116282906	12:122,708,940	T/C	—	likely benign
rs80081594	12:122,708,996	C/T	—	benign
rs1001918743	12:122,709,053	C/T	—	uncertain significance
rs199898020	12:122,709,063	G/A	—	conflicting classifications of pathogenicity
rs574777883	12:122,709,067	T/C	—	conflicting classifications of pathogenicity
rs1262667995	12:122,709,084	G/A	—	uncertain significance
rs2547143360	12:122,709,141	C/A	—	uncertain significance
rs752826028	12:122,709,143	C/A	—	likely benign
rs758602603	12:122,709,144	C/T	—	not provided
rs1226051871	12:122,709,176	C/G	—	uncertain significance
rs201330335	12:122,709,183	T/G	—	conflicting classifications of pathogenicity
rs1593183180	12:122,709,190	A/T	—	uncertain significance
rs872494	12:122,710,169	G/A	—	benign
rs114187204	12:122,710,194	C/T	—	likely benign
rs150657838	12:122,710,278	G/A	—	likely benign
rs372776075	12:122,710,507	G/A	—	conflicting classifications of pathogenicity
rs76582402	12:122,710,514	G/T	—	uncertain significance
rs373013757	12:122,710,521	G/A	—	uncertain significance
rs754247644	12:122,710,528	C/G	—	conflicting classifications of pathogenicity
rs1358073390	12:122,710,532	G/C	—	likely benign
rs370060703	12:122,710,534	G/A	—	uncertain significance
rs1954459100	12:122,710,539	A/G	—	uncertain significance
rs139511903	12:122,710,543	A/T	—	conflicting classifications of pathogenicity
rs202028496	12:122,710,554	G/A	—	uncertain significance
rs1213903405	12:122,710,562	T/C	—	uncertain significance
rs755788729	12:122,710,570	G/C	—	uncertain significance
rs376530914	12:122,710,572	G/A	—	conflicting classifications of pathogenicity
rs1290150	12:122,710,582	G/A	—	benign
rs532792133	12:122,710,658	A/G	—	likely benign
rs541062326	12:122,710,740	C/T	—	likely benign
rs559684241	12:122,710,787	C/G	—	likely benign
rs377396016	12:122,710,852	G/A	—	likely benign
rs552911860	12:122,711,115	G/C	—	likely benign
rs571308981	12:122,711,151	G/A	—	likely benign
rs115516950	12:122,711,249	A/G	—	likely benign
rs111297621	12:122,711,442	G/T	—	likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.