Entrez Gene ID	6299
Official Gene Symbol	SALL1 (GeneCards)
Full name	spalt like transcription factor 1
Location	16q12.1
Other ids	Vega : OTTHUMG00000133176 MIM : 602218 HGNC : HGNC:10524 Ensembl : ENSG00000103449
Other names	TBS, HSAL1, Sal-1, ZNF794, HEL-S-89
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]

Variants

Found 95 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
337	6299	SALL1	16	51175021	51175021	Townes Brocks syndrome	Sanger
547	6299	SALL1	16	51174878	51174878	Townes Brocks syndrome	Sanger
548	6299	SALL1	16	51174878	51174878	Townes Brocks syndrome	Sanger
549	6299	SALL1	16	51174878	51174878	Townes Brocks syndrome	Sanger
19393	6299	SALL1	16	51422528	51422528	Asymptomatic	Sanger HiSeq X Ten
19483	6299	SALL1	16	51409132	51409132	Asymptomatic	Sanger HiSeq X Ten
19628	6299	SALL1	16	51343561	51343561	Asymptomatic	Sanger HiSeq X Ten
19656	6299	SALL1	16	51254386	51254386	Asymptomatic	Sanger HiSeq X Ten
19742	6299	SALL1	16	51567262	51567262	Xeroderma Pigmentosum	Sanger HiSeq X Ten
19757	6299	SALL1	16	51673538	51673538	Xeroderma Pigmentosum	Sanger HiSeq X Ten
23844	6299	SALL1	16	51688533	51688533	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning
23875	6299	SALL1	16	51260530	51260530	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning
28141	6299	SALL1	16	51413191	51413191	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning
28191	6299	SALL1	16	51420137	51420137	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning
30522	6299	SALL1	16	51175307	51175307	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30523	6299	SALL1	16	51174722	51174722	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30524	6299	SALL1	16	51174598	51174598	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30525	6299	SALL1	16	51173588	51173588	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30526	6299	SALL1	16	51173700	51173700	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30527	6299	SALL1	16	51174443	51174443	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30528	6299	SALL1	16	51176026	51176026	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30529	6299	SALL1	16	51175247	51175247	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30530	6299	SALL1	16	51173892	51173892	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30531	6299	SALL1	16	51174059	51174059	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30532	6299	SALL1	16	51174381	51174381	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30533	6299	SALL1	16	51174402	51174402	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30534	6299	SALL1	16	51171440	51171440	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30535	6299	SALL1	16	51171197	51171197	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30536	6299	SALL1	16	51173050	51173050	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30537	6299	SALL1	16	51174711	51174711	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30538	6299	SALL1	16	51173577	51173577	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30539	6299	SALL1	16	51173753	51173753	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30540	6299	SALL1	16	51171197	51171197	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31419	6299	SALL1	16	51171264	51171264	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31420	6299	SALL1	16	51174555	51174555	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31421	6299	SALL1	16	51174702	51174702	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31422	6299	SALL1	16	51173646	51173646	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31423	6299	SALL1	16	51175914	51175914	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31424	6299	SALL1	16	51175392	51175392	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31425	6299	SALL1	16	51174179	51174179	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31426	6299	SALL1	16	51175513	51175513	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31427	6299	SALL1	16	51174168	51174168	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31428	6299	SALL1	16	51174110	51174110	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31429	6299	SALL1	16	51173774	51173774	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31430	6299	SALL1	16	51173577	51173577	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31431	6299	SALL1	16	51173715	51173715	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31432	6299	SALL1	16	51173085	51173085	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31433	6299	SALL1	16	51174326	51174326	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31434	6299	SALL1	16	51176013	51176013	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31435	6299	SALL1	16	51174180	51174180	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31436	6299	SALL1	16	51175900	51175900	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31437	6299	SALL1	16	51171121	51171121	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31438	6299	SALL1	16	51175306	51175307	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31439	6299	SALL1	16	51176013	51176013	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31440	6299	SALL1	16	51174110	51174110	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31441	6299	SALL1	16	51175485	51175485	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31442	6299	SALL1	16	51173506	51173506	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31443	6299	SALL1	16	51174370	51174370	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31444	6299	SALL1	16	51174609	51174609	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31445	6299	SALL1	16	51175866	51175866	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31446	6299	SALL1	16	51172673	51172674	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31447	6299	SALL1	16	51174941	51174941	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31448	6299	SALL1	16	51174443	51174443	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31449	6299	SALL1	16	51173141	51173141	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31450	6299	SALL1	16	51175457	51175457	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
31451	6299	SALL1	16	51173633	51173633	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33091	6299	SALL1	16	51174632	51174632	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33092	6299	SALL1	16	51171227	51171227	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33093	6299	SALL1	16	51171454	51171454	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33094	6299	SALL1	16	51173837	51173837	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33095	6299	SALL1	16	51171332	51171332	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33096	6299	SALL1	16	51174296	51174296	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33097	6299	SALL1	16	51173893	51173893	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33098	6299	SALL1	16	51174452	51174453	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33099	6299	SALL1	16	51174597	51174597	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33100	6299	SALL1	16	51173149	51173149	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33101	6299	SALL1	16	51175886	51175886	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33102	6299	SALL1	16	51175886	51175886	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33103	6299	SALL1	16	51174442	51174442	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33104	6299	SALL1	16	51174442	51174442	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33105	6299	SALL1	16	51175797	51175797	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33106	6299	SALL1	16	51173898	51173898	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33107	6299	SALL1	16	51172954	51172954	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33108	6299	SALL1	16	51173698	51173698	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33109	6299	SALL1	16	51175306	51175306	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34019	6299	SALL1	16	51173749	51173749	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34020	6299	SALL1	16	51174348	51174348	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34021	6299	SALL1	16	51174910	51174910	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34022	6299	SALL1	16	51174910	51174910	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34023	6299	SALL1	16	51173542	51173542	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34024	6299	SALL1	16	51174465	51174465	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34025	6299	SALL1	16	51171340	51171340	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34026	6299	SALL1	16	51175691	51175691	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34027	6299	SALL1	16	51172651	51172651	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
34028	6299	SALL1	16	51174680	51174680	Asymptomatic	Sanger HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel

SALL1 (Entrez ID: 6299)

Variants