Overview

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)

Other information

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

Annotations and predictions

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 #1

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

Publication #1: 28867142

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;