Overview

Variant ID 29926
Entrez Gene ID 23211
Gene ZC3H4 (GeneCards)
Location hg19 19:47584864-47584864
hg38 19:47081607-47081607
Disease Autism Spectrum Disorders (view all the variants in this disease)
Method NextSeq500
Mutation(HGVS format) NC_000019.9:g.47584864 T>A (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 59128983

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.6961
CADD Raw score (version 1.3) 5.083888 (Deleterious)
FATHMM raw prediction score 0.9905 (Tolerated)
SIFT score 0 (Deleterious)
LRT score 0 (Tolerated)
MutationTaster score 1 (Deleterious)
MutatioinAssessor score 2.195 (Deleterious)
PROVEAN score -4.68 (Deleterious)
MetaSVM score -0.988 (Tolerated)
MetaLR score 0.296 (Tolerated)
MCAP score 0.02 (Tolerated)
FitCons score 0.707 (Highly Significant p < 0.003 )
Genomic Evolutionary Rate Profiling (GERP) score 5.72
PhyloP score based on multiple alignment of 100 vertebrates 6.201
PhastCons score based on multiple alignment of 100 vertebrates 1
SiPhy log transformed odds ratio on multiple alignment of 29 mammals 14.974
Deleterious probability by iFish2 0.9553 (Deleterious)
Deleterious probability by DeFine 0.9651 (Deleterious)
Entrez Gene ID 23211 (NCBI Gene)
Official Gene Symbol ZC3H4 (GeneCards)
Number of variants in ZC3H4 in this database 2 (view all the variants)
Full name zinc finger CCCH-type containing 4
Band 19q13.32
Other IDs Vega: OTTHUMG00000183442
HGNC: HGNC:17808
Ensembl: ENSG00000130749
Other names C19orf7
Summary This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]

Individual #1

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

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;