| Variant ID | 8971 |
|---|---|
| Entrez Gene ID | 4301 |
| Gene | MLLT4 (GeneCards) |
| Location | hg19 6:168288195-168288195
hg38 6:167887515-167887515 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.168288195 G>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3697 |
| CADD Raw score (version 1.3) | -0.113817 (Deleterious) |
| FATHMM raw prediction score | 0.06617 (Tolerated) |
| Deleterious probability by DeFine | 0.0979 (Neutral) |
| Entrez Gene ID | 4301 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MLLT4 (GeneCards) |
| Number of variants in AFDN in this database | 1 (view all the variants) |
| Full name | afadin, adherens junction formation factor |
| Band | 6q27 |
| Other IDs | Vega: OTTHUMG00000016031 OMIM: 159559 HGNC: HGNC:7137 Ensembl: ENSG00000130396 |
| Other names | AF6, MLLT4, MLL-AF6, l-afadin |
| Summary | This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011] |
| Individual ID | 29217584.03 (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; |