| Variant ID | 880 |
|---|---|
| Entrez Gene ID | 126205 |
| Gene | NLRP8 (GeneCards) |
| Location | hg19 19:56487622-56487622
hg38 19:55976256-55976256 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.56487622 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 943 |
| 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 | 0.156 |
| CADD Raw score (version 1.3) | -0.625101 (Deleterious) |
| FATHMM raw prediction score | 0.13988 (Tolerated) |
| Deleterious probability by DeFine | 0.3145 (Neutral) |
| Entrez Gene ID | 126205 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NLRP8 (GeneCards) |
| Number of variants in NLRP8 in this database | 2 (view all the variants) |
| Full name | NLR family pyrin domain containing 8 |
| Band | 19q13.43 |
| Other IDs | Vega: OTTHUMG00000181754 OMIM: 609659 HGNC: HGNC:22940 Ensembl: ENSG00000179709 |
| Other names | PAN4, NALP8, NOD16, CLR19.2 |
| Summary | This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] |
| Individual ID | 27788131.01 (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; |