| Variant ID | 29709 |
|---|---|
| Entrez Gene ID | 23499 |
| Gene | MACF1 (GeneCards) |
| Location | hg19 1:39903616-39903616
hg38 1:39437944-39437944 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.39903616 G>A (Genome Assembly: hg19) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0192 |
| CADD Raw score (version 1.3) | 0.875808 (Deleterious) |
| FATHMM raw prediction score | 0.97007 (Tolerated) |
| Deleterious probability by DeFine | 0.9009 (Deleterious) |
| Entrez Gene ID | 23499 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MACF1 (GeneCards) |
| Number of variants in MACF1 in this database | 6 (view all the variants) |
| Full name | microtubule-actin crosslinking factor 1 |
| Band | 1p34.3 |
| Other IDs | Vega: OTTHUMG00000007754 OMIM: 608271 HGNC: HGNC:13664 Ensembl: ENSG00000127603 |
| Other names | ACF7, MACF, OFC4, ABP620 |
| Summary | This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013] |
| Individual ID | 28867142.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |