Case#: HCM491, female, 30 years, not a smoker

DiseaseAssertion: HCM

FamilyInfo: None

CasePresentingHPOs: 44mm LAD, 23mm LVST, 32mm LVEDD, 75% LVEF, 28mm Maxi LVWT, 64mmHg Maxi LVOTG, 123213328 raw RNA-seq reads, 115698990 HQ reads (93.90%), 95.97% mapping rate, 756623 total variant, 34040 exonic variant

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

CaseGenotypingMethod: RNA-seq, read mapping, variant calling, identify functional variants, differential expression analysis, miRWalk miRNA target prediction, LncRNA annotation, Co-expression network analysis, PPI network analysis, gene over-representation analysis,

Variant: NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)

ClinVar: 42874 https://www.ncbi.nlm.nih.gov/clinvar/variation/42874/

CAID: N/A

gnomAD: absent