| Variant ID | 13870 |
|---|---|
| Entrez Gene ID | 1316 |
| Gene | KLF6 (GeneCards) |
| Location | hg19 10:4022206-4022206
hg38 10:3980014-3980014 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.4022206 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009694 |
|---|---|
| EIGEN score | -0.0609 |
| CADD Raw score (version 1.3) | -0.16208 (Deleterious) |
| FATHMM raw prediction score | 0.14316 (Tolerated) |
| Deleterious probability by DeFine | 0.6146 (Deleterious) |
| Entrez Gene ID | 1316 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLF6 (GeneCards) |
| Number of variants in KLF6 in this database | 4 (view all the variants) |
| Full name | Kruppel like factor 6 |
| Band | 10p15.2 |
| Other IDs | Vega: OTTHUMG00000017567 OMIM: 602053 HGNC: HGNC:2235 Ensembl: ENSG00000067082 |
| Other names | GBF, ZF9, BCD1, CBA1, CPBP, PAC1, ST12, COPEB |
| Summary | This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |