SALL1 Chromosome 16
Spalt like transcription factor 1
Upload your DNA to see your personal genotypes for variants in SALL1.
What This Gene Does
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]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000103449
Associated Conditions (9)
Townes-Brocks syndrome 1
Townes syndrome
SALL1-related disorder
Congenital anomaly of kidney and urinary tract
Inborn genetic diseases
Sarcoma
Malignant tumor of esophagus
Townes-Brocks-branchiootorenal-like syndrome
Hearing impairment
Key Variants
RS113614842
Conflicting classifications of pathogenicity
Townes-Brocks syndrome 1, Townes syndrome, Townes syndrome
Health Risk
RS1262719912
Conflicting classifications of pathogenicity
Townes syndrome, Townes syndrome
Health Risk
RS1375814966
Conflicting classifications of pathogenicity
Townes syndrome, Townes-Brocks syndrome 1, Inborn genetic diseases
Health Risk
RS1417997778
Conflicting classifications of pathogenicity
Townes syndrome, Townes-Brocks syndrome 1, SALL1-related disorder
Health Risk
RS142653419
Conflicting classifications of pathogenicity
Townes syndrome, Townes syndrome
Health Risk
RS1430868205
Conflicting classifications of pathogenicity
Townes syndrome, Townes syndrome
Health Risk
RS143637930
Conflicting classifications of pathogenicity
Townes syndrome, Townes syndrome
Health Risk
RS144782810
Conflicting classifications of pathogenicity
Townes syndrome, Inborn genetic diseases, Townes syndrome
Health Risk
RS148931484
Conflicting classifications of pathogenicity
Townes syndrome, SALL1-related disorder, Inborn genetic diseases
Health Risk
RS149603480
Conflicting classifications of pathogenicity
Townes syndrome, Townes syndrome
Health Risk
RS151051011
Conflicting classifications of pathogenicity
Townes syndrome, Townes syndrome
Health Risk
RS1555475414
Conflicting classifications of pathogenicity
SALL1-related disorder, Townes syndrome, SALL1-related disorder
Health Risk
All Variants (129)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143448859 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS2143449682 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS2143450333 | Health Risk | Pathogenic | — |
| RS2143451854 | Health Risk | Pathogenic | — |
| RS2506483483 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS2506487275 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS2506487537 | Health Risk | Pathogenic | Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506491042 | Health Risk | Pathogenic | Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506492504 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS2506492916 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS2506493255 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS2506493436 | Health Risk | Pathogenic | Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506494395 | Health Risk | Pathogenic | Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2506494740 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS2506494808 | Health Risk | Pathogenic | Townes syndrome, SALL1-related disorder, Townes syndrome |
| RS2506495603 | Health Risk | Pathogenic | — |
| RS2506495989 | Health Risk | Pathogenic | — |
| RS2506496552 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS371508788 | Health Risk | Pathogenic | Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS774195162 | Health Risk | Pathogenic | — |
| RS777802829 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS886041236 | Health Risk | Pathogenic | Townes syndrome, Townes syndrome |
| RS886042011 | Health Risk | Pathogenic | — |
| RS886044708 | Health Risk | Pathogenic | — |
| RS104894537 | Health Risk | Pathogenic/Likely pathogenic | Townes-Brocks syndrome 1, Townes syndrome, Townes-Brocks syndrome 1 |
| RS1962424706 | Health Risk | Pathogenic/Likely pathogenic | Townes-Brocks syndrome 1, Townes syndrome, Townes-Brocks syndrome 1 |
| RS2143449624 | Health Risk | Pathogenic/Likely pathogenic | Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS2143450145 | Health Risk | Pathogenic/Likely pathogenic | Townes-Brocks syndrome 1, Townes-Brocks syndrome 1 |
| RS864321635 | Health Risk | Pathogenic/Likely pathogenic | Townes-Brocks syndrome 1, Townes syndrome, Townes-Brocks syndrome 1 |