| Variant ID | 29179 |
|---|---|
| Entrez Gene ID | 79981 |
| Gene | FRMD1 (GeneCards) |
| Location | hg19 6:168462591-168462591
hg38 6:168061911-168061911 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.168462591 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9005 |
| CADD Raw score (version 1.3) | 0.194594 (Deleterious) |
| FATHMM raw prediction score | 0.76397 (Tolerated) |
| SIFT score | 0.014 (Deleterious) |
| LRT score | 0.043 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.895 (Tolerated) |
| PROVEAN score | -1.95 (Tolerated) |
| MetaSVM score | -0.937 (Tolerated) |
| MetaLR score | 0.14 (Tolerated) |
| MCAP score | 0.016 (Tolerated) |
| FitCons score | 0.403 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.646 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.659 |
| Deleterious probability by iFish2 | 0.0251 (Neutral) |
| Deleterious probability by DeFine | 0.9181 (Deleterious) |
| Entrez Gene ID | 79981 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FRMD1 (GeneCards) |
| Number of variants in FRMD1 in this database | 5 (view all the variants) |
| Full name | FERM domain containing 1 |
| Band | 6q27 |
| Other IDs | Vega: OTTHUMG00000016037 HGNC: HGNC:21240 Ensembl: ENSG00000153303 |
| Other names | bA164L23.1 |
| Summary | None |
| Individual ID | 28503910.55 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |