| Variant ID | 10292 |
|---|---|
| Entrez Gene ID | 6568 |
| Gene | SLC17A1 (GeneCards) |
| Location | hg19 6:25817283-25817283
hg38 6:25817055-25817055 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.25817283 G>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3561 |
| CADD Raw score (version 1.3) | 0.04508 (Deleterious) |
| FATHMM raw prediction score | 0.0975 (Tolerated) |
| Deleterious probability by DeFine | 0.1085 (Neutral) |
| Entrez Gene ID | 6568 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC17A1 (GeneCards) |
| Number of variants in SLC17A1 in this database | 2 (view all the variants) |
| Full name | solute carrier family 17 member 1 |
| Band | 6p22.2 |
| Other IDs | Vega: OTTHUMG00000016297 OMIM: 182308 HGNC: HGNC:10929 Ensembl: ENSG00000124568 |
| Other names | NPT1, NPT-1, NAPI-1 |
| Summary | None |
| 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; |