| Variant ID | 23730 |
|---|---|
| Entrez Gene ID | 84189 |
| Gene | SLITRK6 (GeneCards) |
| Location | hg19 13:86975016-86975016
hg38 13:86322761-86322761 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000013.10:g.86975016 G>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 | -0.2754 |
| CADD Raw score (version 1.3) | -0.382899 (Deleterious) |
| FATHMM raw prediction score | 0.0919 (Tolerated) |
| Deleterious probability by DeFine | 0.0456 (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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |