| Variant ID | 807 |
|---|---|
| Entrez Gene ID | 84689 |
| Gene | MS4A14 (GeneCards) |
| Location | hg19 11:60164067-60164067
hg38 11:60396594-60396594 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.60164067 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 6 |
| Amino acid changes in protein | Q > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.1057 |
| CADD Raw score (version 1.3) | 0.799562 (Deleterious) |
| FATHMM raw prediction score | 0.00695 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0.068 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.245 (Tolerated) |
| PROVEAN score | -0.95 (Tolerated) |
| MetaSVM score | -0.956 (Tolerated) |
| MetaLR score | 0.052 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -4.82 |
| PhyloP score based on multiple alignment of 100 vertebrates | -1.253 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.142 |
| Deleterious probability by iFish2 | 0.0558 (Neutral) |
| Deleterious probability by DeFine | 0.7527 (Deleterious) |
| Entrez Gene ID | 84689 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MS4A14 (GeneCards) |
| Number of variants in MS4A14 in this database | 1 (view all the variants) |
| Full name | membrane spanning 4-domains A14 |
| Band | 11q12.2 |
| Other IDs | Vega: OTTHUMG00000167357 HGNC: HGNC:30706 Ensembl: ENSG00000166928 |
| Other names | MS4A16, NYD-SP21 |
| 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; |