{{Rsnum
|rsid=78950939
|Gene=MPO
|Chromosome=17
|position=58279553
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MPO
}}{{omim
|id=606989
|rsnum=78950939
|variant=0002
}}{{ClinVar
|rsid=78950939
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=56356914
|CHROM=17
|GMAF=0.0005
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050060000000040416110100
|GENEINFO=MPO:4353
|GENE_NAME=MPO
|GENE_ID=4353
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.56356914T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=606989.0002
|CLNSIG=5
|CLNCUI=C0398595
|CLNDBN=Myeloperoxidase deficiency
|Disease=Myeloperoxidase deficiency
|CLNACC=RCV000003811.1
|Tags=PM;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0398595:254600:129644003:234433009
|COMMON=0
}}{{GET Evidence
|gene=MPO
|aa_change=Tyr173Cys
|aa_change_short=Y173C
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs78950939
|overall_frequency_n=6
|overall_frequency_d=10758
|overall_frequency=0.000557724
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=3
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=3
|in_omim=Y
|pph2_score=1.0
|nblosum100=6
|autoscore=4
|webscore=N
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant is reported to cause MPO-deficiency, which is generally asymptomatic. MPO-deficiency may cause increased susceptibility to immunodeficiency or antibacterial immune response, but most people with MPO deficiency have no symptoms. This gene is likely to be redundant with other immune mechanisms, and individuals who did have symptoms possibly had additional pathogenic variants in other genes.
}}