| Variant ID | 19915 |
|---|---|
| Entrez Gene ID | 9343 |
| Gene | EFTUD2 (GeneCards) |
| Location | hg19 17:42965577-42965577
hg38 17:44888209-44888209 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.42965577 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009689 |
|---|---|
| EIGEN score | -0.1875 |
| CADD Raw score (version 1.3) | 0.063303 (Deleterious) |
| FATHMM raw prediction score | 0.12322 (Tolerated) |
| Deleterious probability by DeFine | 0.3091 (Neutral) |
| Entrez Gene ID | 9343 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EFTUD2 (GeneCards) |
| Number of variants in EFTUD2 in this database | 2 (view all the variants) |
| Full name | elongation factor Tu GTP binding domain containing 2 |
| Band | 17q21.31 |
| Other IDs | Vega: OTTHUMG00000179865 OMIM: 603892 HGNC: HGNC:30858 Ensembl: ENSG00000108883 |
| Other names | MFDM, MFDGA, Sn114, Snrp116, SNRNP116, U5-116KD |
| Summary | This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] |
| Individual ID | 29217584.09 (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; |