Overview

Variant ID 29527
Entrez Gene ID 200150
Gene PLD5 (GeneCards)
Location hg19 1:242383342-242383342
hg38 1:242220040-242220040
Disease Autism Spectrum Disorders (view all the variants in this disease)
Method MiSeq
Mutation(HGVS format) NC_000001.10:g.242383342 T>C (Genome Assembly: hg19)

Other information

Exon or Intron NA
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 -0.2242
CADD Raw score (version 1.3) 1.246935 (Deleterious)
FATHMM raw prediction score 0.76599 (Tolerated)
SIFT score 0.697 (Tolerated)
LRT score 0 (Deleterious)
MutationTaster score 0.727 (Tolerated)
MutatioinAssessor score 0.79 (Tolerated)
PROVEAN score 0 (Tolerated)
MetaSVM score -1.042 (Tolerated)
MetaLR score 0.018 (Tolerated)
MCAP score 0.003 (Tolerated)
FitCons score 0.653 (Highly Significant p < 0.003 )
Genomic Evolutionary Rate Profiling (GERP) score 5.52
PhyloP score based on multiple alignment of 100 vertebrates 4.024
PhastCons score based on multiple alignment of 100 vertebrates 1
SiPhy log transformed odds ratio on multiple alignment of 29 mammals 12.02
Deleterious probability by iFish2 0.025 (Neutral)
Deleterious probability by DeFine 0.9823 (Deleterious)
Entrez Gene ID 200150 (NCBI Gene)
Official Gene Symbol PLD5 (GeneCards)
Number of variants in PLD5 in this database 9 (view all the variants)
Full name phospholipase D family member 5
Band 1q43
Other IDs Vega: OTTHUMG00000039867
HGNC: HGNC:26879
Ensembl: ENSG00000180287
Other names PLDC
Summary None

Individual #1

Individual ID 28714951.203 (view all the variants in this individual)
Pubmed ID 28714951
Whose mosaic mutation Patient  
Phenotype 3  
Disease Autism Spectrum Disorders (view all the variants in this disease)
OMIM ID 209850

Publication #1: 28714951

Pubmed ID 28714951
Title Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Journal Nat Neurosci
Publication date 2017.07
Disease Autism Spectrum Disorders
Incidence 0.01
Number of cases cases of unknown sex: 376;