Overview

Variant ID 25812
Entrez Gene ID 10085
Gene EDIL3 (GeneCards)
Location hg19 5:83636558-83636558
hg38 5:84340740-84340740
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000005.9:g.83636558 G>C (Genome Assembly: GRCh37)

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 180915260

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1129
CADD Raw score (version 1.3) -0.326893 (Deleterious)
FATHMM raw prediction score 0.12859 (Tolerated)
Deleterious probability by DeFine 0.2069 (Neutral)
Entrez Gene ID 10085 (NCBI Gene)
Official Gene Symbol EDIL3 (GeneCards)
Number of variants in EDIL3 in this database 30 (view all the variants)
Full name EGF like repeats and discoidin domains 3
Band 5q14.3
Other IDs Vega: OTTHUMG00000119047
OMIM: 606018
HGNC: HGNC:3173
Ensembl: ENSG00000164176
Other names DEL1
Summary The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID