| Variant ID | 29190 |
|---|---|
| Entrez Gene ID | 1114 |
| Gene | CHGB (GeneCards) |
| Location | hg19 20:5903482-5903482
hg38 20:5922836-5922836 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000020.10:g.5903482 G>A (Genome Assembly: GRCh37) |
| 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5464 |
| CADD Raw score (version 1.3) | 4.785637 (Deleterious) |
| FATHMM raw prediction score | 0.93485 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0.014 (Tolerated) |
| MutationTaster score | 0.984 (Deleterious) |
| MutatioinAssessor score | 2.125 (Deleterious) |
| PROVEAN score | -1.25 (Tolerated) |
| MetaSVM score | -1.139 (Tolerated) |
| MetaLR score | 0.029 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.45 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.566 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.054 |
| Deleterious probability by iFish2 | 0.5125 (Deleterious) |
| Deleterious probability by DeFine | 0.9671 (Deleterious) |
| Entrez Gene ID | 1114 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHGB (GeneCards) |
| Number of variants in CHGB in this database | 1 (view all the variants) |
| Full name | chromogranin B |
| Band | 20p12.3 |
| Other IDs | Vega: OTTHUMG00000031821 OMIM: 118920 HGNC: HGNC:1930 Ensembl: ENSG00000089199 |
| Other names | SCG1 |
| Summary | This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009] |
| Individual ID | 28503910.65 (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; |