| Variant ID | 17822 |
|---|---|
| Entrez Gene ID | 84189 |
| Gene | SLITRK6 (GeneCards) |
| Location | hg19 13:87149736-87149736
hg38 13:86497481-86497481 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.87149736 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3342 |
| CADD Raw score (version 1.3) | -0.136858 (Deleterious) |
| FATHMM raw prediction score | 0.06332 (Tolerated) |
| Deleterious probability by DeFine | 0.05 (Neutral) |
| Entrez Gene ID | 84189 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLITRK6 (GeneCards) |
| Number of variants in SLITRK6 in this database | 25 (view all the variants) |
| Full name | SLIT and NTRK like family member 6 |
| Band | 13q31.1 |
| Other IDs | Vega: OTTHUMG00000017157 OMIM: 609681 HGNC: HGNC:23503 Ensembl: ENSG00000184564 |
| Other names | DFNMYP |
| Summary | This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014] |
| Individual ID | 29217584.17 (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; |