| Variant ID | 30534 |
|---|---|
| Entrez Gene ID | 6299 |
| Gene | SALL1 (GeneCards) |
| Location | hg19 16:51171440-51171440
hg38 16:51137529-51137529 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000016.9:g.51171440 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1186 |
| Amino acid changes in protein | W > * |
| Position in cDNA | 3558 |
| Changes in cDNA | G > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1006 |
| CADD Raw score (version 1.3) | 13.609461 (Deleterious) |
| FATHMM raw prediction score | 0.99473 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | 0.08 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.898 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.468 |
| Deleterious probability by DeFine | 0.9486 (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 | 25999502.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |