| Variant ID | 20780 |
|---|---|
| Entrez Gene ID | 5205 |
| Gene | ATP8B1 (GeneCards) |
| Location | hg19 18:55700287-55700287
hg38 18:58033055-58033055 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.55700287 C>T (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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4592 |
| CADD Raw score (version 1.3) | -0.323622 (Deleterious) |
| FATHMM raw prediction score | 0.07507 (Tolerated) |
| Deleterious probability by DeFine | 0.3428 (Neutral) |
| Entrez Gene ID | 5205 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATP8B1 (GeneCards) |
| Number of variants in ATP8B1 in this database | 2 (view all the variants) |
| Full name | ATPase phospholipid transporting 8B1 |
| Band | 18q21.31 |
| Other IDs | Vega: OTTHUMG00000180255 OMIM: 602397 HGNC: HGNC:3706 Ensembl: ENSG00000081923 |
| Other names | BRIC, FIC1, ICP1, PFIC, ATPIC, PFIC1 |
| Summary | This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |