| Variant ID | 953 |
|---|---|
| Entrez Gene ID | 730005 |
| Gene | SEC14L6 (GeneCards) |
| Location | hg19 22:30925076-30925076
hg38 22:30529089-30529089 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000022.10:g.30925076 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 221 |
| Amino acid changes in protein | G > E |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2937215 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 0.4198 |
| CADD Raw score (version 1.3) | 5.267789 (Deleterious) |
| FATHMM raw prediction score | 0.96131 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| MutationTaster score | 0.998 (Deleterious) |
| MutatioinAssessor score | 3.34 (Deleterious) |
| PROVEAN score | -6.62 (Deleterious) |
| MetaSVM score | -0.568 (Tolerated) |
| MetaLR score | 0.213 (Tolerated) |
| MCAP score | 0.107 (Deleterious) |
| FitCons score | 0.657 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.337 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.59 |
| Deleterious probability by iFish2 | 0.898 (Deleterious) |
| Deleterious probability by DeFine | 0.9349 (Deleterious) |
| Entrez Gene ID | 730005 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEC14L6 (GeneCards) |
| Number of variants in SEC14L6 in this database | 2 (view all the variants) |
| Full name | SEC14 like lipid binding 6 |
| Band | 22q12.2 |
| Other IDs | Vega: OTTHUMG00000151267 HGNC: HGNC:40047 Ensembl: ENSG00000214491 |
| Other names | None |
| Summary | None |
| 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; |