| Variant ID | 29279 |
|---|---|
| Entrez Gene ID | 51031 |
| Gene | GLOD4 (GeneCards) |
| Location | hg19 17:663411-663411
hg38 17:760171-760171 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.663411 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | 3UTR |
|---|---|
| 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) | 0.0000646 |
|---|---|
| EIGEN score | 0.3462 |
| CADD Raw score (version 1.3) | 0.546362 (Deleterious) |
| FATHMM raw prediction score | 0.22494 (Tolerated) |
| Deleterious probability by DeFine | 0.8693 (Deleterious) |
| Entrez Gene ID | 51031 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GLOD4 (GeneCards) |
| Number of variants in GLOD4 in this database | 1 (view all the variants) |
| Full name | glyoxalase domain containing 4 |
| Band | 17p13.3 |
| Other IDs | Vega: OTTHUMG00000177497 HGNC: HGNC:14111 Ensembl: ENSG00000167699 |
| Other names | HC71, CGI-150, C17orf25 |
| Summary | None |
| Individual ID | 28503910.156 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |