| Variant ID | 29721 |
|---|---|
| Entrez Gene ID | 84288 |
| Gene | EFCAB2 (GeneCards) |
| Location | hg19 1:245250572-245250572
hg38 1:245087270-245087270 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.245250572 G>T (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 | -0.0599 |
| CADD Raw score (version 1.3) | 2.84071 (Deleterious) |
| FATHMM raw prediction score | 0.9405 (Tolerated) |
| SIFT score | 0.253 (Tolerated) |
| MutationTaster score | 0.999 (Deleterious) |
| PROVEAN score | -1.84 (Tolerated) |
| MetaSVM score | -0.875 (Tolerated) |
| MetaLR score | 0.152 (Tolerated) |
| MCAP score | 0.06 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.47 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.675 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.171 |
| Deleterious probability by iFish2 | 0.1287 (Neutral) |
| Deleterious probability by DeFine | 0.9037 (Deleterious) |
| Entrez Gene ID | 84288 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EFCAB2 (GeneCards) |
| Number of variants in EFCAB2 in this database | 3 (view all the variants) |
| Full name | EF-hand calcium binding domain 2 |
| Band | 1q44 |
| Other IDs | Vega: OTTHUMG00000040474 HGNC: HGNC:28166 Ensembl: ENSG00000203666 |
| Other names | DRC8, CFAP200 |
| Summary | The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] |
| Individual ID | 28867142.22 (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; |