| Variant ID | 16883 |
|---|---|
| Entrez Gene ID | 121441 |
| Gene | NEDD1 (GeneCards) |
| Location | hg19 12:97504380-97504380
hg38 12:97110602-97110602 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.97504380 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3761 |
| CADD Raw score (version 1.3) | -0.034324 (Deleterious) |
| FATHMM raw prediction score | 0.07371 (Tolerated) |
| Deleterious probability by DeFine | 0.115 (Neutral) |
| Entrez Gene ID | 121441 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NEDD1 (GeneCards) |
| Number of variants in NEDD1 in this database | 9 (view all the variants) |
| Full name | neural precursor cell expressed, developmentally down-regulated 1 |
| Band | 12q23.1 |
| Other IDs | Vega: OTTHUMG00000170604 OMIM: 600372 HGNC: HGNC:7723 Ensembl: ENSG00000139350 |
| Other names | GCP-WD, TUBGCP7 |
| Summary | None |
| Individual ID | 29217584.15 (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; |