| Variant ID | 19819 |
|---|---|
| Entrez Gene ID | 284058 |
| Gene | KANSL1 (GeneCards) |
| Location | hg19 17:44193926-44193926
hg38 17:46116560-46116560 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000017.10:g.44193926 T>C (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3656 |
| CADD Raw score (version 1.3) | -0.082546 (Deleterious) |
| FATHMM raw prediction score | 0.07412 (Tolerated) |
| Deleterious probability by DeFine | 0.1573 (Neutral) |
| Entrez Gene ID | 284058 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KANSL1 (GeneCards) |
| Number of variants in KANSL1 in this database | 4 (view all the variants) |
| Full name | KAT8 regulatory NSL complex subunit 1 |
| Band | 17q21.31 |
| Other IDs | Vega: OTTHUMG00000178026 OMIM: 612452 HGNC: HGNC:24565 Ensembl: ENSG00000120071 |
| Other names | KDVS, NSL1, MSL1v1, CENP-36, hMSL1v1, KIAA1267 |
| Summary | This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012] |
| 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; |