| Variant ID | 4281 |
|---|---|
| Entrez Gene ID | 3899 |
| Gene | AFF3 (GeneCards) |
| Location | hg19 2:100483176-100483176
hg38 2:99866714-99866714 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.100483176 C>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4284 |
| CADD Raw score (version 1.3) | 0.440642 (Deleterious) |
| FATHMM raw prediction score | 0.12529 (Tolerated) |
| Deleterious probability by DeFine | 0.1795 (Neutral) |
| Entrez Gene ID | 3899 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AFF3 (GeneCards) |
| Number of variants in AFF3 in this database | 4 (view all the variants) |
| Full name | AF4/FMR2 family member 3 |
| Band | 2q11.2 |
| Other IDs | Vega: OTTHUMG00000153011 OMIM: 601464 HGNC: HGNC:6473 Ensembl: ENSG00000144218 |
| Other names | LAF4, MLLT2-like |
| Summary | This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |