| Variant ID | 12681 |
|---|---|
| Entrez Gene ID | 115111 |
| Gene | SLC26A7 (GeneCards) |
| Location | hg19 8:92243072-92243072
hg38 8:91230844-91230844 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.92243072 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0263 |
| CADD Raw score (version 1.3) | 0.189379 (Deleterious) |
| FATHMM raw prediction score | 0.11849 (Tolerated) |
| Deleterious probability by DeFine | 0.3713 (Neutral) |
| Entrez Gene ID | 115111 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC26A7 (GeneCards) |
| Number of variants in SLC26A7 in this database | 8 (view all the variants) |
| Full name | solute carrier family 26 member 7 |
| Band | 8q21.3 |
| Other IDs | Vega: OTTHUMG00000164062 OMIM: 608479 HGNC: HGNC:14467 Ensembl: ENSG00000147606 |
| Other names | SUT2 |
| Summary | This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |