| Variant ID | 9012 |
|---|---|
| Entrez Gene ID | 114792 |
| Gene | KLHL32 (GeneCards) |
| Location | hg19 6:97392239-97392239
hg38 6:96944363-96944363 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000006.11:g.97392239 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.033 |
| CADD Raw score (version 1.3) | 0.270797 (Deleterious) |
| FATHMM raw prediction score | 0.16631 (Tolerated) |
| Deleterious probability by DeFine | 0.5013 (Deleterious) |
| Entrez Gene ID | 114792 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL32 (GeneCards) |
| Number of variants in KLHL32 in this database | 3 (view all the variants) |
| Full name | kelch like family member 32 |
| Band | 6q16.1 |
| Other IDs | Vega: OTTHUMG00000015247 HGNC: HGNC:21221 Ensembl: ENSG00000186231 |
| Other names | BKLHD5, KIAA1900, dJ21F7.1, UG0030H05 |
| Summary | None |
| Individual ID | 29217584.04 (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; |