| Variant ID | 9871 |
|---|---|
| Entrez Gene ID | 23328 |
| Gene | SASH1 (GeneCards) |
| Location | hg19 6:148760962-148760962
hg38 6:148439826-148439826 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.148760962 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1555 |
| CADD Raw score (version 1.3) | 0.434986 (Deleterious) |
| FATHMM raw prediction score | 0.16552 (Tolerated) |
| Deleterious probability by DeFine | 0.368 (Neutral) |
| Entrez Gene ID | 23328 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SASH1 (GeneCards) |
| Number of variants in SASH1 in this database | 5 (view all the variants) |
| Full name | SAM and SH3 domain containing 1 |
| Band | 6q24.3-q25.1 |
| Other IDs | Vega: OTTHUMG00000015773 OMIM: 607955 HGNC: HGNC:19182 Ensembl: ENSG00000111961 |
| Other names | SH3D6A, dJ323M4.1 |
| Summary | This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016] |
| Individual ID | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |