| Variant ID | 29376 |
|---|---|
| Entrez Gene ID | 57731 |
| Gene | SPTBN4 (GeneCards) |
| Location | hg19 19:41012241-41012241
hg38 19:40506334-40506334 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.41012241 C>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.005 |
| CADD Raw score (version 1.3) | 1.245779 (Deleterious) |
| FATHMM raw prediction score | 0.53299 (Tolerated) |
| Deleterious probability by DeFine | 0.6765 (Deleterious) |
| Entrez Gene ID | 57731 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPTBN4 (GeneCards) |
| Number of variants in SPTBN4 in this database | 1 (view all the variants) |
| Full name | spectrin beta, non-erythrocytic 4 |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000182592 OMIM: 606214 HGNC: HGNC:14896 Ensembl: ENSG00000160460 |
| Other names | QV, CMND, SPNB4, SPTBN3 |
| Summary | Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.52 (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; |