| Variant ID | 2341 |
|---|---|
| Entrez Gene ID | 23499 |
| Gene | MACF1 (GeneCards) |
| Location | hg19 1:39825960-39825960
hg38 1:39360288-39360288 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.39825960 T>C (Genome Assembly: GRCh37) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1382 |
| CADD Raw score (version 1.3) | -0.193908 (Deleterious) |
| FATHMM raw prediction score | 0.09175 (Tolerated) |
| Deleterious probability by DeFine | 0.4113 (Neutral) |
| 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 | 29217584.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |