| Variant ID | 29137 |
|---|---|
| Entrez Gene ID | 3614 |
| Gene | IMPDH1 (GeneCards) |
| Location | hg19 7:128040992-128040992
hg38 7:128400938-128400938 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000007.13:g.128040992 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.025 |
| CADD Raw score (version 1.3) | 0.14947 (Deleterious) |
| FATHMM raw prediction score | 0.2185 (Tolerated) |
| Deleterious probability by DeFine | 0.8387 (Deleterious) |
| Entrez Gene ID | 3614 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IMPDH1 (GeneCards) |
| Number of variants in IMPDH1 in this database | 2 (view all the variants) |
| Full name | inosine monophosphate dehydrogenase 1 |
| Band | 7q32.1 |
| Other IDs | Vega: OTTHUMG00000157713 OMIM: 146690 HGNC: HGNC:6052 Ensembl: ENSG00000106348 |
| Other names | IMPD, RP10, IMPD1, LCA11, IMPDH-I, sWSS2608 |
| Summary | The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
| Individual ID | 28503910.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |