| Variant ID | 16109 |
|---|---|
| Entrez Gene ID | 4753 |
| Gene | NELL2 (GeneCards) |
| Location | hg19 12:45089622-45089622
hg38 12:44695839-44695839 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.45089622 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 | -0.5351 |
| CADD Raw score (version 1.3) | -0.252365 (Deleterious) |
| FATHMM raw prediction score | 0.04913 (Tolerated) |
| Deleterious probability by DeFine | 0.3002 (Neutral) |
| Entrez Gene ID | 4753 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NELL2 (GeneCards) |
| Number of variants in NELL2 in this database | 2 (view all the variants) |
| Full name | neural EGFL like 2 |
| Band | 12q12 |
| Other IDs | Vega: OTTHUMG00000169464 OMIM: 602320 HGNC: HGNC:7751 Ensembl: ENSG00000184613 |
| Other names | NRP2 |
| Summary | The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009] |
| 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; |