| Variant ID | 20174 |
|---|---|
| Entrez Gene ID | 22901 |
| Gene | ARSG (GeneCards) |
| Location | hg19 17:66397745-66397745
hg38 17:68401604-68401604 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.66397745 C>T (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5135 |
| CADD Raw score (version 1.3) | 0.641306 (Deleterious) |
| FATHMM raw prediction score | 0.52312 (Tolerated) |
| Deleterious probability by DeFine | 0.806 (Deleterious) |
| Entrez Gene ID | 22901 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARSG (GeneCards) |
| Number of variants in ARSG in this database | 3 (view all the variants) |
| Full name | arylsulfatase G |
| Band | 17q24.2 |
| Other IDs | Vega: OTTHUMG00000179810 OMIM: 610008 HGNC: HGNC:24102 Ensembl: ENSG00000141337 |
| Other names | None |
| Summary | The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |