| Variant ID | 808 |
|---|---|
| Entrez Gene ID | 341359 |
| Gene | SYT10 (GeneCards) |
| Location | hg19 12:33538139-33538139
hg38 12:33385204-33385204 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.33538139 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 389 |
| Amino acid changes in protein | N > H |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1361264 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.6567 |
| CADD Raw score (version 1.3) | 5.774348 (Deleterious) |
| FATHMM raw prediction score | 0.9748 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.61 (Tolerated) |
| PROVEAN score | -4.39 (Deleterious) |
| MetaSVM score | 0.033 (Deleterious) |
| MetaLR score | 0.537 (Deleterious) |
| MCAP score | 0.077 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.388 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.873 |
| Deleterious probability by iFish2 | 0.9052 (Deleterious) |
| Deleterious probability by DeFine | 0.8983 (Deleterious) |
| Entrez Gene ID | 341359 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SYT10 (GeneCards) |
| Number of variants in SYT10 in this database | 6 (view all the variants) |
| Full name | synaptotagmin 10 |
| Band | 12p11.1 |
| Other IDs | Vega: OTTHUMG00000169269 HGNC: HGNC:19266 Ensembl: ENSG00000110975 |
| Other names | None |
| 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; |