| Variant ID | 337 |
|---|---|
| Entrez Gene ID | 6299 |
| Gene | SALL1 (GeneCards) |
| Location | hg19 16:51175021-51175021
hg38 16:51141110-51141110 |
| Disease | Townes Brocks syndrome (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000016.9:g.51175021 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 2 |
| Position in protein | 371 |
| Amino acid changes in protein | S > Z |
| Position in cDNA | 1112 |
| Changes in cDNA | C > G |
| mRNA accession | NM_002968.2 |
| mRNA length | 3975 |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7173 |
| CADD Raw score (version 1.3) | 9.11949 (Deleterious) |
| FATHMM raw prediction score | 0.86634 (Tolerated) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.785 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.674 |
| Deleterious probability by DeFine | 0.9572 (Deleterious) |
| Entrez Gene ID | 6299 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SALL1 (GeneCards) |
| Number of variants in SALL1 in this database | 95 (view all the variants) |
| Full name | spalt like transcription factor 1 |
| Band | 16q12.1 |
| Other IDs | Vega: OTTHUMG00000133176 OMIM: 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] |
| Individual ID | 19291771.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 19291771 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Townes Brocks syndrome (view all the variants in this disease) |
| OMIM ID | 107480 |
| Pubmed ID | 19291771 |
|---|---|
| Title | Somatic Mosaicism for the SALL1 Mutation p.Ser371X in Full Blown Townes Brocks Syndrome With Duane Anomaly |
| Journal | American Journal of Medical Genetics |
| Publication date | 2009.02 |
| Disease | Townes Brocks Syndrome |
| Number of cases | Male cases: 1; |