| Variant ID | 1040 |
|---|---|
| Entrez Gene ID | 4804 |
| Gene | NGFR (GeneCards) |
| Location | hg19 17:47590170-47590170
hg38 17:49512808-49512808 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.47590170 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 361 |
| Amino acid changes in protein | H > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.8714 |
| CADD Raw score (version 1.3) | 1.813245 (Deleterious) |
| FATHMM raw prediction score | 0.92389 (Tolerated) |
| Deleterious probability by DeFine | 0.954 (Deleterious) |
| Entrez Gene ID | 4804 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NGFR (GeneCards) |
| Number of variants in NGFR in this database | 1 (view all the variants) |
| Full name | nerve growth factor receptor |
| Band | 17q21.33 |
| Other IDs | Vega: OTTHUMG00000161495 OMIM: 162010 HGNC: HGNC:7809 Ensembl: ENSG00000064300 |
| Other names | CD271, p75NTR, TNFRSF16, p75(NTR), Gp80-LNGFR |
| Summary | Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008] |
| 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; |