| Variant ID | 16002 |
|---|---|
| Entrez Gene ID | 4745 |
| Gene | NELL1 (GeneCards) |
| Location | hg19 11:22204710-22204710
hg38 11:22183164-22183164 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.22204710 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.17 |
| CADD Raw score (version 1.3) | -0.13929 (Deleterious) |
| FATHMM raw prediction score | 0.09783 (Tolerated) |
| Deleterious probability by DeFine | 0.1658 (Neutral) |
| Entrez Gene ID | 4745 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NELL1 (GeneCards) |
| Number of variants in NELL1 in this database | 18 (view all the variants) |
| Full name | neural EGFL like 1 |
| Band | 11p15.1 |
| Other IDs | Vega: OTTHUMG00000166042 OMIM: 602319 HGNC: HGNC:7750 Ensembl: ENSG00000165973 |
| Other names | NRP1, IDH3GL |
| Summary | This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |