| Variant ID | 1547 |
|---|---|
| Entrez Gene ID | 3925 |
| Gene | STMN1 (GeneCards) |
| Location | hg19 1:26228141-26228141
hg38 1:25901650-25901650 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000001.10:g.26228141 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 73 |
| Amino acid changes in protein | A > NA |
| Position in cDNA | 219 |
| Changes in cDNA | T > C |
| mRNA accession | NM_001145454.1 |
| mRNA length | 2265 |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3495 |
| CADD Raw score (version 1.3) | 0.982722 (Deleterious) |
| FATHMM raw prediction score | 0.9096 (Tolerated) |
| Deleterious probability by DeFine | 0.8368 (Deleterious) |
| Entrez Gene ID | 3925 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STMN1 (GeneCards) |
| Number of variants in STMN1 in this database | 4 (view all the variants) |
| Full name | stathmin 1 |
| Band | 1p36.11 |
| Other IDs | Vega: OTTHUMG00000007389 OMIM: 151442 HGNC: HGNC:6510 Ensembl: ENSG00000117632 |
| Other names | Lag, SMN, OP18, PP17, PP19, PR22, LAP18, C1orf215 |
| Summary | This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] |
| Individual ID | 28867142.27 (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; |