{{Rsnum
|rsid=28730716
|Gene=CASQ2
|Chromosome=1
|position=115726998
|Orientation=minus
|GMAF=0.02342
|Gene_s=CASQ2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ClinVar
|rsid=28730716
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=115726998
|CHROM=1
|GMAF=0.0234
|dbSNPBuildID=125
|SSR=0
|SAO=1
|VP=0x050360000a05150516100100
|GENEINFO=CASQ2:845
|GENE_NAME=CASQ2
|GENE_ID=845
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.115726998T>C
|CLNSRC=ClinVar; Emory University; GeneDx; LabCorp
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Cardiac arrhythmia; AllHighlyPenetrant; not provided
|Disease=Cardiac arrhythmia; AllHighlyPenetrant; not provided
|Tags=RV;PM;S3D;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD
|CAF=0.9766; 0.02342
|CLNACC=RCV000029424.1; RCV000037146.2; RCV000124122.1
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=C0003811:115000; CN169374
|COMMON=1
|CLNSRCID=NM_001232.3:c.731A>G; 11377; 11022
}}

{{GET Evidence
|gene=CASQ2
|aa_change=His244Arg
|aa_change_short=H244R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs28730716
|overall_frequency_n=290
|overall_frequency_d=10758
|overall_frequency=0.0269567
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.871
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=5
|n_web_uneval=1
}}

{{on chip | HumanOmni1Quad}}