| Variant ID | 10516 |
|---|---|
| Entrez Gene ID | 55975 |
| Gene | KLHL7 (GeneCards) |
| Location | hg19 7:23163279-23163279
hg38 7:23123660-23123660 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.23163279 A>G (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3221 |
| CADD Raw score (version 1.3) | 0.766809 (Deleterious) |
| FATHMM raw prediction score | 0.16642 (Tolerated) |
| Deleterious probability by DeFine | 0.6092 (Deleterious) |
| Entrez Gene ID | 55975 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL7 (GeneCards) |
| Number of variants in KLHL7 in this database | 2 (view all the variants) |
| Full name | kelch like family member 7 |
| Band | 7p15.3 |
| Other IDs | Vega: OTTHUMG00000094813 OMIM: 611119 HGNC: HGNC:15646 Ensembl: ENSG00000122550 |
| Other names | CISS3, KLHL6, SBBI26 |
| Summary | This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010] |
| Individual ID | 29217584.05 (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; |