| Variant ID | 18040 |
|---|---|
| Entrez Gene ID | 254170 |
| Gene | FBXO33 (GeneCards) |
| Location | hg19 14:41048432-41048432
hg38 14:40579227-40579227 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.41048432 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3509 |
| CADD Raw score (version 1.3) | -0.127789 (Deleterious) |
| FATHMM raw prediction score | 0.09333 (Tolerated) |
| Deleterious probability by DeFine | 0.2824 (Neutral) |
| Entrez Gene ID | 254170 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBXO33 (GeneCards) |
| Number of variants in FBXO33 in this database | 27 (view all the variants) |
| Full name | F-box protein 33 |
| Band | 14q21.1 |
| Other IDs | Vega: OTTHUMG00000140257 OMIM: 609103 HGNC: HGNC:19833 Ensembl: ENSG00000165355 |
| Other names | Fbx33, BMND12, c14_5247 |
| Summary | This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010] |
| 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; |