| Variant ID | 13884 |
|---|---|
| Entrez Gene ID | 10580 |
| Gene | SORBS1 (GeneCards) |
| Location | hg19 10:97195548-97195548
hg38 10:95435791-95435791 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.97195548 C>T (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1018 |
| CADD Raw score (version 1.3) | 0.247818 (Deleterious) |
| FATHMM raw prediction score | 0.13787 (Tolerated) |
| Deleterious probability by DeFine | 0.8442 (Deleterious) |
| Entrez Gene ID | 10580 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SORBS1 (GeneCards) |
| Number of variants in SORBS1 in this database | 2 (view all the variants) |
| Full name | sorbin and SH3 domain containing 1 |
| Band | 10q24.1 |
| Other IDs | Vega: OTTHUMG00000018812 OMIM: 605264 HGNC: HGNC:14565 Ensembl: ENSG00000095637 |
| Other names | CAP, FLAF2, R85FL, SH3D5, SORB1, SH3P12 |
| Summary | This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.03 (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; |