| Variant ID | 845 |
|---|---|
| Entrez Gene ID | 256714 |
| Gene | MAP7D2 (GeneCards) |
| Location | hg19 X:20062597-20062597
hg38 X:20044479-20044479 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.20062597 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 255 |
| Amino acid changes in protein | P > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 3.583779 (Deleterious) |
| FATHMM raw prediction score | 0.93034 (Tolerated) |
| SIFT score | 0.025 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.972 (Tolerated) |
| MutatioinAssessor score | 0.69 (Tolerated) |
| PROVEAN score | -1.68 (Tolerated) |
| MetaSVM score | -1.082 (Tolerated) |
| MetaLR score | 0.023 (Tolerated) |
| MCAP score | 0.158 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.23 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.986 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.803 |
| Deleterious probability by iFish2 | 0.0405 (Neutral) |
| Deleterious probability by DeFine | 0.9489 (Deleterious) |
| Entrez Gene ID | 256714 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAP7D2 (GeneCards) |
| Number of variants in MAP7D2 in this database | 1 (view all the variants) |
| Full name | MAP7 domain containing 2 |
| Band | Xp22.12 |
| Other IDs | Vega: OTTHUMG00000021228 HGNC: HGNC:25899 Ensembl: ENSG00000184368 |
| 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; |