Variant ID | 29721 |
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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 |
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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 |
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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) |
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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 |
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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; |