| Variant ID | 835 |
|---|---|
| Entrez Gene ID | 161003 |
| Gene | STOML3 (GeneCards) |
| Location | hg19 13:39541117-39541117
hg38 13:38966980-38966980 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000013.10:g.39541117 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 232 |
| Amino acid changes in protein | S > A |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0955 |
| CADD Raw score (version 1.3) | 1.348446 (Deleterious) |
| FATHMM raw prediction score | 0.90391 (Tolerated) |
| SIFT score | 0.047 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.625 (Tolerated) |
| PROVEAN score | -2.35 (Tolerated) |
| MetaSVM score | 1.105 (Deleterious) |
| MetaLR score | 0.948 (Deleterious) |
| MCAP score | 0.266 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.46 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.201 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.355 |
| Deleterious probability by iFish2 | 0.0883 (Neutral) |
| Deleterious probability by DeFine | 0.9504 (Deleterious) |
| Entrez Gene ID | 161003 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STOML3 (GeneCards) |
| Number of variants in STOML3 in this database | 1 (view all the variants) |
| Full name | stomatin like 3 |
| Band | 13q13.3 |
| Other IDs | Vega: OTTHUMG00000016763 OMIM: 608327 HGNC: HGNC:19420 Ensembl: ENSG00000133115 |
| Other names | SRO, Epb7.2l |
| 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; |