| Variant ID | 796 |
|---|---|
| Entrez Gene ID | 341116 |
| Gene | MS4A10 (GeneCards) |
| Location | hg19 11:60561471-60561471
hg38 11:60793998-60793998 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.60561471 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 129 |
| Amino acid changes in protein | L > L |
| 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 | 0.1262 |
| CADD Raw score (version 1.3) | 0.162102 (Deleterious) |
| FATHMM raw prediction score | 0.12585 (Tolerated) |
| Deleterious probability by DeFine | 0.7426 (Deleterious) |
| Entrez Gene ID | 341116 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MS4A10 (GeneCards) |
| Number of variants in MS4A10 in this database | 1 (view all the variants) |
| Full name | membrane spanning 4-domains A10 |
| Band | 11q12.2 |
| Other IDs | Vega: OTTHUMG00000167689 OMIM: 608403 HGNC: HGNC:13368 Ensembl: ENSG00000172689 |
| Other names | MS4A9, CD20L7 |
| Summary | Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004] |
| 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; |