Overview

Variant ID 25229
Entrez Gene ID 2042
Gene EPHA3 (GeneCards)
Location hg19 3:89388999-89388999
hg38 3:89339849-89339849
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000003.11:g.89388999 C>A (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 198022430

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1712
CADD Raw score (version 1.3) -0.08767 (Deleterious)
FATHMM raw prediction score 0.11736 (Tolerated)
Deleterious probability by DeFine 0.3792 (Neutral)
Entrez Gene ID 2042 (NCBI Gene)
Official Gene Symbol EPHA3 (GeneCards)
Number of variants in EPHA3 in this database 13 (view all the variants)
Full name EPH receptor A3
Band 3p11.1
Other IDs Vega: OTTHUMG00000159040
OMIM: 179611
HGNC: HGNC:3387
Ensembl: ENSG00000044524
Other names EK4, ETK, HEK, ETK1, HEK4, TYRO4
Summary This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [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