| Variant ID | 7392 |
|---|---|
| Entrez Gene ID | 132430 |
| Gene | PABPC4L (GeneCards) |
| Location | hg19 4:136105870-136105870
hg38 4:135184715-135184715 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.136105870 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4037 |
| CADD Raw score (version 1.3) | -0.0968 (Deleterious) |
| FATHMM raw prediction score | 0.06257 (Tolerated) |
| Deleterious probability by DeFine | 0.0776 (Neutral) |
| Entrez Gene ID | 132430 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PABPC4L (GeneCards) |
| Number of variants in PABPC4L in this database | 20 (view all the variants) |
| Full name | poly(A) binding protein cytoplasmic 4 like |
| Band | 4q28.3 |
| Other IDs | Vega: OTTHUMG00000161292 HGNC: HGNC:31955 Ensembl: ENSG00000254535 |
| Other names | None |
| Summary | None |
| 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; |