| Variant ID | 18628 |
|---|---|
| Entrez Gene ID | 8650 |
| Gene | NUMB (GeneCards) |
| Location | hg19 14:73915928-73915928
hg38 14:73449221-73449221 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.73915928 G>A (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.0005 |
|---|---|
| EIGEN score | -0.8275 |
| CADD Raw score (version 1.3) | -0.76893 (Deleterious) |
| FATHMM raw prediction score | 0.03783 (Tolerated) |
| Deleterious probability by DeFine | 0.0644 (Neutral) |
| Entrez Gene ID | 8650 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NUMB (GeneCards) |
| Number of variants in NUMB in this database | 2 (view all the variants) |
| Full name | NUMB, endocytic adaptor protein |
| Band | 14q24.2-q24.3 |
| Other IDs | Vega: OTTHUMG00000171436 OMIM: 603728 HGNC: HGNC:8060 Ensembl: ENSG00000133961 |
| Other names | S171, C14orf41, c14_5527 |
| Summary | The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
| 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; |