| Variant ID | 29456 |
|---|---|
| Entrez Gene ID | 2934 |
| Gene | GSN (GeneCards) |
| Location | hg19 9:124073052-124073052
hg38 9:121310774-121310774 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.124073052 C>T (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8109 |
| CADD Raw score (version 1.3) | 7.641461 (Deleterious) |
| FATHMM raw prediction score | 0.8896 (Tolerated) |
| SIFT score | 0.016 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4 (Deleterious) |
| PROVEAN score | -4.56 (Deleterious) |
| MetaSVM score | 0.079 (Deleterious) |
| MetaLR score | 0.449 (Tolerated) |
| MCAP score | 0.099 (Deleterious) |
| FitCons score | 0.737 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.2 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.645 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.323 |
| Deleterious probability by iFish2 | 0.2582 (Neutral) |
| Deleterious probability by DeFine | 0.9542 (Deleterious) |
| Entrez Gene ID | 2934 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GSN (GeneCards) |
| Number of variants in GSN in this database | 1 (view all the variants) |
| Full name | gelsolin |
| Band | 9q33.2 |
| Other IDs | Vega: OTTHUMG00000020584 OMIM: 137350 HGNC: HGNC:4620 Ensembl: ENSG00000148180 |
| Other names | ADF, AGEL |
| Summary | The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.132 (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; |