SALL1

spalt like transcription factor 1

Summary

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants420 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs753566942	16:51,171,014	C/T	—	likely benign
rs1962314280	16:51,171,032	G/A	—	likely benign
rs199701845	16:51,171,034	C/T	—	conflicting classifications of pathogenicity
rs200583558	16:51,171,035	G/C	—	conflicting classifications of pathogenicity
rs1366906259	16:51,171,041	C/T	—	likely benign
rs375212546	16:51,171,051	T/C	—	uncertain significance
rs189411650	16:51,171,056	G/A	—	likely benign
rs529030284	16:51,171,060	C/T	—	conflicting classifications of pathogenicity
rs199883962	16:51,171,061	G/A	—	uncertain significance
rs775499747	16:51,171,070	G/A	—	uncertain significance
rs140524372	16:51,171,083	G/A	—	benign
rs767612617	16:51,171,108	A/C	—	conflicting classifications of pathogenicity
rs766538484	16:51,171,112	C/T	—	uncertain significance
rs1962318663	16:51,171,123	G/T	—	uncertain significance
rs74499562	16:51,171,126	C/T	—	likely benign
rs1232792464	16:51,171,130	G/A	—	uncertain significance
rs2506476542	16:51,171,142	G/A	—	likely pathogenic
rs777335761	16:51,171,143	G/C	—	likely benign
rs1962320101	16:51,171,151	C/T	—	uncertain significance
rs2506476611	16:51,171,153	A/G	—	uncertain significance
rs1962320266	16:51,171,155	G/C	—	uncertain significance
rs776104367	16:51,171,162	G/A	—	uncertain significance
rs1962320580	16:51,171,166	G/C	—	uncertain significance
rs4614723	16:51,171,175	C/T	missense variant	benign
rs369070446	16:51,171,190	C/T	—	uncertain significance
rs764123321	16:51,171,196	C/T	—	uncertain significance
rs1450033371	16:51,171,197	G/A	—	likely benign
rs149302006	16:51,171,204	C/T	—	likely benign
rs1962322854	16:51,171,211	T/C	—	uncertain significance
rs376879952	16:51,171,216	G/A	—	uncertain significance
rs756490958	16:51,171,217	G/A	—	uncertain significance
rs145423593	16:51,171,227	G/A	—	likely benign
rs886052081	16:51,171,230	C/T	—	likely benign
rs138153478	16:51,171,239	G/A	—	likely benign
rs142653419	16:51,171,248	G/A	—	conflicting classifications of pathogenicity
rs768727477	16:51,171,261	G/A	—	uncertain significance
rs148612488	16:51,171,269	G/A	—	likely benign
rs535981732	16:51,171,270	T/C	—	uncertain significance
rs185996794	16:51,171,278	C/T	—	likely benign
rs114000443	16:51,171,302	G/C	—	uncertain significance
rs201147024	16:51,171,313	C/T	—	conflicting classifications of pathogenicity
rs1170249889	16:51,171,317	A/C	—	uncertain significance
rs150748596	16:51,171,332	C/T	—	likely benign
rs578198178	16:51,171,333	G/A	—	likely benign
rs2506477563	16:51,171,340	C/T	—	uncertain significance
rs1231648107	16:51,171,350	C/T	—	uncertain significance
rs377652797	16:51,171,367	C/A	—	uncertain significance
rs773228308	16:51,171,368	G/A	—	likely benign
rs771150548	16:51,171,375	C/T	—	uncertain significance
rs2506477716	16:51,171,378	C/A	—	uncertain significance
rs573638901	16:51,171,381	A/G	—	uncertain significance
rs542678985	16:51,171,395	G/A	—	benign
rs1555474728	16:51,171,397	C/T	—	uncertain significance
rs1030315086	16:51,171,414	C/T	—	uncertain significance
rs776672993	16:51,171,461	T/C	—	likely benign
rs114061800	16:51,171,615	G/C	—	likely benign
rs1465338	16:51,171,670	C/T	—	benign
rs72789959	16:51,172,325	C/G	—	benign
rs7184489	16:51,172,559	G/C	—	benign
rs144390055	16:51,172,574	G/A	—	benign
rs775713627	16:51,172,594	G/A	—	likely benign
rs11645288	16:51,172,677	A/G	—	benign
rs763919896	16:51,172,696	G/A	—	uncertain significance
rs1064793257	16:51,172,718	—	—	pathogenic
rs1352323090	16:51,172,724	T/C	—	uncertain significance
rs748506953	16:51,172,753	G/A	—	conflicting classifications of pathogenicity
rs773784402	16:51,172,760	C/A	—	uncertain significance
rs763725677	16:51,172,786	G/A	—	uncertain significance
rs1305658369	16:51,172,795	A/G	—	uncertain significance
rs374166565	16:51,172,803	A/G	—	likely benign
rs375357921	16:51,172,806	C/T	—	likely benign
rs780221020	16:51,172,807	G/A	missense variant	pathogenic
rs148931484	16:51,172,811	C/G	—	conflicting classifications of pathogenicity
rs547153228	16:51,172,823	G/C	—	likely benign
rs886043770	16:51,172,828	T/C	—	uncertain significance
rs939826568	16:51,172,855	A/C	—	uncertain significance
rs371314603	16:51,172,856	C/T	—	uncertain significance
rs761618283	16:51,172,862	C/T	—	uncertain significance
rs143637930	16:51,172,863	G/A	—	conflicting classifications of pathogenicity
rs766210751	16:51,172,888	G/A	—	uncertain significance
rs1241832382	16:51,172,891	A/G	—	likely benign
rs144225643	16:51,172,894	G/A	—	uncertain significance
rs148808830	16:51,172,902	G/A	—	likely benign
rs61731131	16:51,172,911	C/G	—	uncertain significance
rs781484844	16:51,172,924	T/C	—	uncertain significance
rs1375814966	16:51,172,934	G/A	—	conflicting classifications of pathogenicity
rs142054182	16:51,172,953	G/T	—	likely benign
rs2143437983	16:51,172,960	G/C	—	uncertain significance
rs864321635	16:51,172,973	G/A	stop gained	pathogenic
rs1057523060	16:51,172,976	T/G	—	uncertain significance
rs1057518131	16:51,172,979	G/A	stop gained	pathogenic
rs146655918	16:51,173,013	T/C	—	likely benign
rs2506483528	16:51,173,016	G/A	—	likely benign
rs752822198	16:51,173,038	G/A	—	uncertain significance
rs1238657472	16:51,173,045	T/C	—	uncertain significance
rs377643763	16:51,173,049	T/C	—	likely benign
rs1962364472	16:51,173,065	T/G	—	uncertain significance
rs138625168	16:51,173,112	G/C	—	uncertain significance
rs1962365125	16:51,173,128	G/A	—	uncertain significance
rs2143438583	16:51,173,133	G/C	—	uncertain significance

Showing 100 of 420 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.