| Variant ID | 19902 |
|---|---|
| Entrez Gene ID | 8522 |
| Gene | GAS7 (GeneCards) |
| Location | hg19 17:9994662-9994662
hg38 17:10091345-10091345 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.9994662 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 | -0.2141 |
| CADD Raw score (version 1.3) | 0.197538 (Deleterious) |
| FATHMM raw prediction score | 0.08898 (Tolerated) |
| Deleterious probability by DeFine | 0.2338 (Neutral) |
| 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 | 29217584.08 (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; |