| Variant ID | 29334 |
|---|---|
| Entrez Gene ID | 55669 |
| Gene | MFN1 (GeneCards) |
| Location | hg19 3:179096450-179096450
hg38 3:179378662-179378662 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.179096450 A>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3660360 |
| Variant occurences in COSMIC | 1(liver) |
| EIGEN score | 0.725 |
| CADD Raw score (version 1.3) | 4.295702 (Deleterious) |
| FATHMM raw prediction score | 0.99537 (Tolerated) |
| SIFT score | 0.104 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.225 (Deleterious) |
| PROVEAN score | -1.42 (Tolerated) |
| MetaSVM score | 0.549 (Deleterious) |
| MetaLR score | 0.733 (Deleterious) |
| MCAP score | 0.132 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.16 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.889 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.001 |
| Deleterious probability by iFish2 | 0.6346 (Deleterious) |
| Deleterious probability by DeFine | 0.9416 (Deleterious) |
| Entrez Gene ID | 55669 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MFN1 (GeneCards) |
| Number of variants in MFN1 in this database | 1 (view all the variants) |
| Full name | mitofusin 1 |
| Band | 3q26.33 |
| Other IDs | Vega: OTTHUMG00000157385 OMIM: 608506 HGNC: HGNC:18262 Ensembl: ENSG00000171109 |
| Other names | hfzo1, hfzo2 |
| Summary | The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.10 (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; |