| Variant ID | 18963 |
|---|---|
| Entrez Gene ID | 79895 |
| Gene | ATP8B4 (GeneCards) |
| Location | hg19 15:50454731-50454731
hg38 15:50162534-50162534 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.50454731 T>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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1279 |
| CADD Raw score (version 1.3) | 0.215418 (Deleterious) |
| FATHMM raw prediction score | 0.19566 (Tolerated) |
| Deleterious probability by DeFine | 0.051 (Neutral) |
| Entrez Gene ID | 79895 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATP8B4 (GeneCards) |
| Number of variants in ATP8B4 in this database | 6 (view all the variants) |
| Full name | ATPase phospholipid transporting 8B4 (putative) |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000172368 OMIM: 609123 HGNC: HGNC:13536 Ensembl: ENSG00000104043 |
| Other names | ATPIM |
| Summary | This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] |
| Individual ID | 29217584.09 (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; |