| Variant ID | 29474 |
|---|---|
| Entrez Gene ID | 27130 |
| Gene | INVS (GeneCards) |
| Location | hg19 9:103002453-103002453
hg38 9:100240171-100240171 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.103002453 T>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4524 |
| CADD Raw score (version 1.3) | 5.71336 (Deleterious) |
| FATHMM raw prediction score | 0.9669 (Tolerated) |
| SIFT score | 0.116 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | -0.1 (Tolerated) |
| PROVEAN score | -1.61 (Tolerated) |
| MetaSVM score | -0.574 (Tolerated) |
| MetaLR score | 0.23 (Tolerated) |
| MCAP score | 0.039 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.271 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.718 |
| Deleterious probability by iFish2 | 0.5876 (Deleterious) |
| Deleterious probability by DeFine | 0.9528 (Deleterious) |
| Entrez Gene ID | 27130 (NCBI Gene) |
|---|---|
| Official Gene Symbol | INVS (GeneCards) |
| Number of variants in INVS in this database | 2 (view all the variants) |
| Full name | inversin |
| Band | 9q31.1 |
| Other IDs | Vega: OTTHUMG00000020364 OMIM: 243305 HGNC: HGNC:17870 Ensembl: ENSG00000119509 |
| Other names | INV, NPH2, NPHP2 |
| Summary | This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012] |
| Individual ID | 28714951.150 (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; |