| Variant ID | 20125 |
|---|---|
| Entrez Gene ID | 8522 |
| Gene | GAS7 (GeneCards) |
| Location | hg19 17:9870254-9870254
hg38 17:9966937-9966937 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.9870254 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0689 |
| CADD Raw score (version 1.3) | 0.016922 (Deleterious) |
| FATHMM raw prediction score | 0.15164 (Tolerated) |
| Deleterious probability by DeFine | 0.5421 (Deleterious) |
| Entrez Gene ID | 8522 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GAS7 (GeneCards) |
| Number of variants in GAS7 in this database | 5 (view all the variants) |
| Full name | growth arrest specific 7 |
| Band | 17p13.1 |
| Other IDs | Vega: OTTHUMG00000177945 OMIM: 603127 HGNC: HGNC:4169 Ensembl: ENSG00000007237 |
| Other names | None |
| Summary | Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [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; |