| Variant ID | 12846 |
|---|---|
| Entrez Gene ID | 10656 |
| Gene | KHDRBS3 (GeneCards) |
| Location | hg19 8:137513693-137513693
hg38 8:136501450-136501450 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.137513693 A>G (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 | -0.6935 |
| CADD Raw score (version 1.3) | -0.61275 (Deleterious) |
| FATHMM raw prediction score | 0.05251 (Tolerated) |
| Deleterious probability by DeFine | 0.1814 (Neutral) |
| Entrez Gene ID | 10656 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KHDRBS3 (GeneCards) |
| Number of variants in KHDRBS3 in this database | 27 (view all the variants) |
| Full name | KH RNA binding domain containing, signal transduction associated 3 |
| Band | 8q24.23 |
| Other IDs | Vega: OTTHUMG00000164164 OMIM: 610421 HGNC: HGNC:18117 Ensembl: ENSG00000131773 |
| Other names | Etle, SALP, SLM2, SLM-2, TSTAR, T-STAR, etoile |
| 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; |