| Variant ID | 11944 |
|---|---|
| Entrez Gene ID | 2131 |
| Gene | EXT1 (GeneCards) |
| Location | hg19 8:119091464-119091464
hg38 8:118079225-118079225 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.119091464 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003227 |
|---|---|
| EIGEN score | -0.2383 |
| CADD Raw score (version 1.3) | -0.236779 (Deleterious) |
| FATHMM raw prediction score | 0.10059 (Tolerated) |
| Deleterious probability by DeFine | 0.6408 (Deleterious) |
| Entrez Gene ID | 2131 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EXT1 (GeneCards) |
| Number of variants in EXT1 in this database | 6 (view all the variants) |
| Full name | exostosin glycosyltransferase 1 |
| Band | 8q24.11 |
| Other IDs | Vega: OTTHUMG00000059718 OMIM: 608177 HGNC: HGNC:3512 Ensembl: ENSG00000182197 |
| Other names | EXT, LGS, TTV, LGCR, TRPS2 |
| Summary | This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |