{{Rsnum
|rsid=115998465
|Gene=EPB42
|Chromosome=15
|position=43203237
|Orientation=plus
|GMAF=0.0004591
|Gene_s=EPB42
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ClinVar
|ALT=A,G
|CAF=0.9995; 0.0004591
|CHROM=15
|CLNACC=RCV000014142.22
|CLNALLE=1
|CLNDBN=Spherocytosis type 5
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2675192:612690:822
|CLNHGVS=NC_000015.9:g.43495435C>A
|CLNORIGIN=1
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=177070.0005
|COMMON=0
|Disease=Spherocytosis type 5
|FwdALT=A,G
|FwdREF=C
|GENEINFO=EPB42:2038
|GENE_ID=2038
|GENE_NAME=EPB42
|REF=C
|RSPOS=43495435
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050268000000000016110100
|WGT=0
|dbSNPBuildID=132
|rsid=115998465
}}{{PMID Auto
|PMID=12176912
|Title=Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.
}}