| Variant ID | 18626 |
|---|---|
| Entrez Gene ID | 4792 |
| Gene | NFKBIA (GeneCards) |
| Location | hg19 14:35941819-35941819
hg38 14:35472613-35472613 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.35941819 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.182 |
| CADD Raw score (version 1.3) | 0.44903 (Deleterious) |
| FATHMM raw prediction score | 0.7776 (Tolerated) |
| Deleterious probability by DeFine | 0.3428 (Neutral) |
| Entrez Gene ID | 4792 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NFKBIA (GeneCards) |
| Number of variants in NFKBIA in this database | 4 (view all the variants) |
| Full name | NFKB inhibitor alpha |
| Band | 14q13.2 |
| Other IDs | Vega: OTTHUMG00000140220 OMIM: 164008 HGNC: HGNC:7797 Ensembl: ENSG00000100906 |
| Other names | IKBA, MAD-3, NFKBI |
| Summary | This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011] |
| 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; |