| Variant ID | 22276 |
|---|---|
| Entrez Gene ID | 56062 |
| Gene | KLHL4 (GeneCards) |
| Location | hg19 X:87057348-87057348
hg38 X:87802348-87802348 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.87057348 G>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.232226 (Deleterious) |
| FATHMM raw prediction score | 0.07181 (Tolerated) |
| Deleterious probability by DeFine | 0.3538 (Neutral) |
| Entrez Gene ID | 56062 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL4 (GeneCards) |
| Number of variants in KLHL4 in this database | 11 (view all the variants) |
| Full name | kelch like family member 4 |
| Band | Xq21.31 |
| Other IDs | Vega: OTTHUMG00000021946 OMIM: 300348 HGNC: HGNC:6355 Ensembl: ENSG00000102271 |
| Other names | KHL4, DKELCHL |
| Summary | This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |