| Variant ID | 29782 |
|---|---|
| Entrez Gene ID | 7407 |
| Gene | VARS (GeneCards) |
| Location | hg19 6:31749930-31749930
hg38 6:31782153-31782153 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.31749930 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.2266 |
| CADD Raw score (version 1.3) | 1.330106 (Deleterious) |
| FATHMM raw prediction score | 0.93917 (Tolerated) |
| Deleterious probability by DeFine | 0.9335 (Deleterious) |
| Entrez Gene ID | 7407 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VARS (GeneCards) |
| Number of variants in VARS in this database | 1 (view all the variants) |
| Full name | valyl-tRNA synthetase |
| Band | 6p21.33 |
| Other IDs | Vega: OTTHUMG00000031286 OMIM: 192150 HGNC: HGNC:12651 Ensembl: ENSG00000204394 |
| Other names | G7A, VARS1, VARS2, NDMSCA |
| Summary | Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.37 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |