| Variant ID | 33101 |
|---|---|
| Entrez Gene ID | 6299 |
| Gene | SALL1 (GeneCards) |
| Location | hg19 16:51175886-51175886
hg38 16:51141975-51141975 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000016.9:g.51175886 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 83 |
| Amino acid changes in protein | E > K |
| Position in cDNA | 247 |
| Changes in cDNA | G > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 140097 |
| Variant occurences in COSMIC | 4(oesophagus)|2(skin)|1(large_intestine) |
| EIGEN score | -0.1788 |
| CADD Raw score (version 1.3) | 2.481521 (Deleterious) |
| FATHMM raw prediction score | 0.97081 (Tolerated) |
| SIFT score | 0.127 (Tolerated) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 0.716 (Deleterious) |
| MutatioinAssessor score | 2.45 (Deleterious) |
| PROVEAN score | -1.59 (Tolerated) |
| MetaSVM score | -1.091 (Tolerated) |
| MetaLR score | 0.026 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.145 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.247 |
| Deleterious probability by iFish2 | 0.8857 (Deleterious) |
| Deleterious probability by DeFine | 0.9514 (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 | 25999502.03 (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; |