| Variant ID | 29927 |
|---|---|
| Entrez Gene ID | 56344 |
| Gene | CABP5 (GeneCards) |
| Location | hg19 19:48542567-48542567
hg38 19:48039310-48039310 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000019.9:g.48542567 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4480947 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 1.219 |
| CADD Raw score (version 1.3) | 1.173444 (Deleterious) |
| FATHMM raw prediction score | 0.96457 (Tolerated) |
| Deleterious probability by DeFine | 0.8961 (Deleterious) |
| Entrez Gene ID | 56344 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CABP5 (GeneCards) |
| Number of variants in CABP5 in this database | 1 (view all the variants) |
| Full name | calcium binding protein 5 |
| Band | 19q13.33 |
| Other IDs | Vega: OTTHUMG00000183139 OMIM: 607315 HGNC: HGNC:13714 Ensembl: ENSG00000105507 |
| Other names | CABP3 |
| Summary | The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009] |
| Individual ID | 28867142.23 (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; |