| Variant ID | 883 |
|---|---|
| Entrez Gene ID | 23544 |
| Gene | SEZ6L (GeneCards) |
| Location | hg19 22:26692976-26692976
hg38 22:26297010-26297010 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000022.10:g.26692976 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 364 |
| Amino acid changes in protein | T > T |
| 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 |
|---|---|
| EIGEN score | 1.5013 |
| CADD Raw score (version 1.3) | 2.168585 (Deleterious) |
| FATHMM raw prediction score | 0.98581 (Tolerated) |
| Deleterious probability by DeFine | 0.9527 (Deleterious) |
| Entrez Gene ID | 23544 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEZ6L (GeneCards) |
| Number of variants in SEZ6L in this database | 5 (view all the variants) |
| Full name | seizure related 6 homolog like |
| Band | 22q12.1 |
| Other IDs | Vega: OTTHUMG00000150870 OMIM: 607021 HGNC: HGNC:10763 Ensembl: ENSG00000100095 |
| 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; |