| Variant ID | 8700 |
|---|---|
| Entrez Gene ID | 92270 |
| Gene | ATP6AP1L (GeneCards) |
| Location | hg19 5:81752629-81752629
hg38 5:82456810-82456810 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.81752629 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009684 |
|---|---|
| EIGEN score | -0.3497 |
| CADD Raw score (version 1.3) | -0.122369 (Deleterious) |
| FATHMM raw prediction score | 0.08083 (Tolerated) |
| Deleterious probability by DeFine | 0.0882 (Neutral) |
| Entrez Gene ID | 92270 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATP6AP1L (GeneCards) |
| Number of variants in ATP6AP1L in this database | 8 (view all the variants) |
| Full name | ATPase H+ transporting accessory protein 1 like |
| Band | 5q14.2 |
| Other IDs | Vega: OTTHUMG00000162558 HGNC: HGNC:28091 Ensembl: ENSG00000205464 |
| Other names | None |
| Summary | None |
| Individual ID | 29217584.19 (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; |