Variant: rs587777204

present in Gene: EIF4A3 present in Chromosome: 17 Position on Chromosome: 80138200 Alleles of this Variant: T/C

rs587777204 in EIF4A3 gene and Richieri Costa Pereira syndrome PMID 24360810 2014 A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.