{{Rsnum
|rsid=61751507
|Gene=CPN1
|Chromosome=10
|position=100069757
|Orientation=plus
|GMAF=0.03214
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CPN1
}}{{omim
|id=603103
|rsnum=61751507
|variant=0002
}}

{{ClinVar
|rsid=61751507
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=101829514
|CHROM=10
|GMAF=0.0321
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050260000000150416110100
|GENEINFO=CPN1:1369
|GENE_NAME=CPN1
|GENE_ID=1369
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.101829514C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603103.0002
|CLNSIG=5
|CLNCUI=C0398782
|CLNDBN=Anaphylotoxin inactivator deficiency
|Disease=Anaphylotoxin inactivator deficiency
|CLNACC=RCV000007002.1
|Tags=PM;S3D;VLD;G5;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9679; 0.03214
|CLNDSDB=MedGen:OMIM:SNOMED_CT:SNOMED_CT
|CLNDSDBID=C0398782:212070:124493003:234627009
|COMMON=1
}}

{{GET Evidence
|gene=CPN1
|aa_change=Gly178Asp
|aa_change_short=G178D
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs61751507
|overall_frequency_n=383
|overall_frequency_d=10758
|overall_frequency=0.0356014
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=0
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=1
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.982
|genetests_testable=Y
|nblosum100=4
|autoscore=5
|webscore=Y
|n_web_uneval=5
|variant_evidence=0
|clinical_importance=0
|summary_short=This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}