| Variant ID | 4251 |
|---|---|
| Entrez Gene ID | 3667 |
| Gene | IRS1 (GeneCards) |
| Location | hg19 2:227621649-227621649
hg38 2:226756933-226756933 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.227621649 G>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5056 |
| CADD Raw score (version 1.3) | -0.21113 (Deleterious) |
| FATHMM raw prediction score | 0.05312 (Tolerated) |
| Deleterious probability by DeFine | 0.292 (Neutral) |
| Entrez Gene ID | 3667 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IRS1 (GeneCards) |
| Number of variants in IRS1 in this database | 3 (view all the variants) |
| Full name | insulin receptor substrate 1 |
| Band | 2q36.3 |
| Other IDs | Vega: OTTHUMG00000133179 OMIM: 147545 HGNC: HGNC:6125 Ensembl: ENSG00000169047 |
| Other names | HIRS-1 |
| Summary | This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |