| Variant ID | 951 |
|---|---|
| Entrez Gene ID | 342897 |
| Gene | NCCRP1 (GeneCards) |
| Location | hg19 19:39688754-39688754
hg38 19:39198114-39198114 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.39688754 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 133 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3432 |
| CADD Raw score (version 1.3) | 1.361967 (Deleterious) |
| FATHMM raw prediction score | 0.88013 (Tolerated) |
| Deleterious probability by DeFine | 0.8801 (Deleterious) |
| Entrez Gene ID | 342897 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NCCRP1 (GeneCards) |
| Number of variants in NCCRP1 in this database | 1 (view all the variants) |
| Full name | non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000182802 OMIM: 615901 HGNC: HGNC:33739 Ensembl: ENSG00000188505 |
| Other names | FBXO50, NCCRP-1 |
| Summary | None |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |