| Variant ID | 17876 |
|---|---|
| Entrez Gene ID | 11278 |
| Gene | KLF12 (GeneCards) |
| Location | hg19 13:74513048-74513048
hg38 13:73938911-73938911 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.74513048 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 | 0.2975 |
| CADD Raw score (version 1.3) | 0.078822 (Deleterious) |
| FATHMM raw prediction score | 0.16852 (Tolerated) |
| Deleterious probability by DeFine | 0.5266 (Deleterious) |
| Entrez Gene ID | 11278 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLF12 (GeneCards) |
| Number of variants in KLF12 in this database | 8 (view all the variants) |
| Full name | Kruppel like factor 12 |
| Band | 13q22.1 |
| Other IDs | Vega: OTTHUMG00000017078 OMIM: 607531 HGNC: HGNC:6346 Ensembl: ENSG00000118922 |
| Other names | AP2REP, AP-2rep, HSPC122 |
| Summary | Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |