| Variant ID | 19251 |
|---|---|
| Entrez Gene ID | 8826 |
| Gene | IQGAP1 (GeneCards) |
| Location | hg19 15:91045295-91045295
hg38 15:90502063-90502063 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.91045295 T>C (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0366 |
| CADD Raw score (version 1.3) | 0.697139 (Deleterious) |
| FATHMM raw prediction score | 0.96084 (Tolerated) |
| Deleterious probability by DeFine | 0.8634 (Deleterious) |
| Entrez Gene ID | 8826 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IQGAP1 (GeneCards) |
| Number of variants in IQGAP1 in this database | 3 (view all the variants) |
| Full name | IQ motif containing GTPase activating protein 1 |
| Band | 15q26.1 |
| Other IDs | Vega: OTTHUMG00000149832 OMIM: 603379 HGNC: HGNC:6110 Ensembl: ENSG00000140575 |
| Other names | SAR1, p195, HUMORFA01 |
| Summary | This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |