| Variant ID | 29780 |
|---|---|
| Entrez Gene ID | 153222 |
| Gene | CREBRF (GeneCards) |
| Location | hg19 5:172550144-172550144
hg38 5:173123141-173123141 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.172550144 A>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3401 |
| CADD Raw score (version 1.3) | 0.346278 (Deleterious) |
| FATHMM raw prediction score | 0.96375 (Tolerated) |
| Deleterious probability by DeFine | 0.7776 (Deleterious) |
| Entrez Gene ID | 153222 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CREBRF (GeneCards) |
| Number of variants in CREBRF in this database | 3 (view all the variants) |
| Full name | CREB3 regulatory factor |
| Band | 5q35.1 |
| Other IDs | Vega: OTTHUMG00000163322 OMIM: 617109 HGNC: HGNC:24050 Ensembl: ENSG00000164463 |
| Other names | LRF, C5orf41 |
| Summary | None |
| Individual ID | 28867142.36 (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; |