| Variant ID | 29405 |
|---|---|
| Entrez Gene ID | 653268 |
| Gene | AGAP7 (GeneCards) |
| Location | hg19 10:51464755-51464755
hg38 10:46131067-46131067 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.51464755 C>G (Genome Assembly: hg19) |
| 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0.00007078 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs4043130 |
| EIGEN score | -1.3871 |
| CADD Raw score (version 1.3) | -0.244881 (Deleterious) |
| FATHMM raw prediction score | 0.9044 (Tolerated) |
| Deleterious probability by DeFine | 0.326 (Neutral) |
| Entrez Gene ID | 653268 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AGAP7 (GeneCards) |
| Number of variants in AGAP7P in this database | 1 (view all the variants) |
| Full name | ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene |
| Band | 10q11.22 |
| Other IDs | HGNC: HGNC:23465 |
| Other names | AGAP7, AGAP-7, CTGLF4, bA109G10.1 |
| Summary | None |
| Individual ID | 28714951.81 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |