| Variant ID | 8881 |
|---|---|
| Entrez Gene ID | 6586 |
| Gene | SLIT3 (GeneCards) |
| Location | hg19 5:168288284-168288284
hg38 5:168861279-168861279 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.168288284 C>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4336 |
| CADD Raw score (version 1.3) | -0.133544 (Deleterious) |
| FATHMM raw prediction score | 0.05021 (Tolerated) |
| Deleterious probability by DeFine | 0.1982 (Neutral) |
| Entrez Gene ID | 6586 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLIT3 (GeneCards) |
| Number of variants in SLIT3 in this database | 11 (view all the variants) |
| Full name | slit guidance ligand 3 |
| Band | 5q34-q35.1 |
| Other IDs | Vega: OTTHUMG00000130409 OMIM: 603745 HGNC: HGNC:11087 Ensembl: ENSG00000184347 |
| Other names | MEGF5, SLIL2, SLIT1, slit2, Slit-3 |
| Summary | The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] |
| Individual ID | 29217584.24 (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; |