| Variant ID | 20176 |
|---|---|
| Entrez Gene ID | 163 |
| Gene | AP2B1 (GeneCards) |
| Location | hg19 17:33945726-33945726
hg38 17:35618707-35618707 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.33945726 T>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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1562 |
| CADD Raw score (version 1.3) | 0.143697 (Deleterious) |
| FATHMM raw prediction score | 0.15344 (Tolerated) |
| Deleterious probability by DeFine | 0.3339 (Neutral) |
| Entrez Gene ID | 163 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AP2B1 (GeneCards) |
| Number of variants in AP2B1 in this database | 2 (view all the variants) |
| Full name | adaptor related protein complex 2 subunit beta 1 |
| Band | 17q12 |
| Other IDs | Vega: OTTHUMG00000179924 OMIM: 601025 HGNC: HGNC:563 Ensembl: ENSG00000006125 |
| Other names | ADTB2, AP105B, CLAPB1, AP2-BETA |
| Summary | The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [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; |