| Variant ID | 12939 |
|---|---|
| Entrez Gene ID | 445577 |
| Gene | C9orf129 (GeneCards) |
| Location | hg19 9:96093281-96093281
hg38 9:93330999-93330999 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.96093281 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2334 |
| CADD Raw score (version 1.3) | -0.184873 (Deleterious) |
| FATHMM raw prediction score | 0.13646 (Tolerated) |
| Deleterious probability by DeFine | 0.0844 (Neutral) |
| Entrez Gene ID | 445577 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C9orf129 (GeneCards) |
| Number of variants in C9orf129 in this database | 1 (view all the variants) |
| Full name | chromosome 9 open reading frame 129 |
| Band | 9q22.31 |
| Other IDs | Vega: OTTHUMG00000020248 HGNC: HGNC:31116 Ensembl: ENSG00000204352 |
| Other names | bA165J3.3 |
| Summary | None |
| 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; |