| Variant ID | 833 |
|---|---|
| Entrez Gene ID | 121227 |
| Gene | LRIG3 (GeneCards) |
| Location | hg19 12:59272851-59272851
hg38 12:58879069-58879069 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.59272851 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 613 |
| Amino acid changes in protein | T > I |
| 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 | 0.6356 |
| CADD Raw score (version 1.3) | 6.324665 (Deleterious) |
| FATHMM raw prediction score | 0.98182 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.002 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.125 (Tolerated) |
| PROVEAN score | -4.37 (Deleterious) |
| MetaSVM score | -0.364 (Tolerated) |
| MetaLR score | 0.413 (Tolerated) |
| MCAP score | 0.069 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.64 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.375 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.707 |
| Deleterious probability by iFish2 | 0.2002 (Neutral) |
| Deleterious probability by DeFine | 0.9608 (Deleterious) |
| Entrez Gene ID | 121227 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRIG3 (GeneCards) |
| Number of variants in LRIG3 in this database | 12 (view all the variants) |
| Full name | leucine rich repeats and immunoglobulin like domains 3 |
| Band | 12q14.1 |
| Other IDs | Vega: OTTHUMG00000169940 OMIM: 608870 HGNC: HGNC:30991 Ensembl: ENSG00000139263 |
| Other names | LIG3 |
| Summary | None |
| 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; |