| Variant ID | 29503 |
|---|---|
| Entrez Gene ID | 9873 |
| Gene | FCHSD2 (GeneCards) |
| Location | hg19 11:72598608-72598608
hg38 11:72887563-72887563 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.72598608 A>C (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9896 |
| CADD Raw score (version 1.3) | 0.122097 (Deleterious) |
| FATHMM raw prediction score | 0.4522 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 0.999 (Tolerated) |
| MutatioinAssessor score | -1.355 (Tolerated) |
| PROVEAN score | 0.82 (Tolerated) |
| MetaSVM score | -1.006 (Tolerated) |
| MetaLR score | 0.019 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.128 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.194 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.987 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.319 |
| Deleterious probability by iFish2 | 0.0001 (Neutral) |
| Deleterious probability by DeFine | 0.6879 (Deleterious) |
| Entrez Gene ID | 9873 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FCHSD2 (GeneCards) |
| Number of variants in FCHSD2 in this database | 2 (view all the variants) |
| Full name | FCH and double SH3 domains 2 |
| Band | 11q13.4 |
| Other IDs | Vega: OTTHUMG00000153082 OMIM: 617556 HGNC: HGNC:29114 Ensembl: ENSG00000137478 |
| Other names | NWK, SH3MD3 |
| Summary | None |
| Individual ID | 28714951.179 (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; |