Hypothesis

c.2945dupA

Case#: 17

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present

CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing

Gene: F8

Variant: NM_000132.3(F8):c.2945dup (p.Asn982LysfsTer9)

ClinVar: 10249 https://www.ncbi.nlm.nih.gov/clinvar/variation/10249/

CAID: CA255142

gnomAD: Not reported

ClinVarID:10249 CAID:CA255142 InheritancePattern:NoInheritanceAssertion DiseaseEntity:FactorVIIIDeficiency Zygosity:NoZygosityAssertion FVIIItesting:Partial ParentalTest:Unknown Mutation:Frameshift HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP

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