| Variant ID | 14790 |
|---|---|
| Entrez Gene ID | 84883 |
| Gene | AIFM2 (GeneCards) |
| Location | hg19 10:71895603-71895603
hg38 10:70135847-70135847 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.71895603 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4431 |
| CADD Raw score (version 1.3) | -0.201969 (Deleterious) |
| FATHMM raw prediction score | 0.08689 (Tolerated) |
| Deleterious probability by DeFine | 0.571 (Deleterious) |
| Entrez Gene ID | 84883 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AIFM2 (GeneCards) |
| Number of variants in AIFM2 in this database | 1 (view all the variants) |
| Full name | apoptosis inducing factor, mitochondria associated 2 |
| Band | 10q22.1 |
| Other IDs | Vega: OTTHUMG00000018398 OMIM: 605159 HGNC: HGNC:21411 Ensembl: ENSG00000042286 |
| Other names | AMID, PRG3 |
| Summary | This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010] |
| Individual ID | 29217584.19 (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; |