| Variant ID | 5884 |
|---|---|
| Entrez Gene ID | 89857 |
| Gene | KLHL6 (GeneCards) |
| Location | hg19 3:183342184-183342184
hg38 3:183624396-183624396 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.183342184 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3217 |
| CADD Raw score (version 1.3) | -0.11587 (Deleterious) |
| FATHMM raw prediction score | 0.11243 (Tolerated) |
| Deleterious probability by DeFine | 0.5361 (Deleterious) |
| Entrez Gene ID | 89857 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL6 (GeneCards) |
| Number of variants in KLHL6 in this database | 8 (view all the variants) |
| Full name | kelch like family member 6 |
| Band | 3q27.1 |
| Other IDs | Vega: OTTHUMG00000148673 OMIM: 614214 HGNC: HGNC:18653 Ensembl: ENSG00000172578 |
| Other names | None |
| Summary | This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] |
| Individual ID | 29217584.22 (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; |