Hypothesis

c.6533G>A

Case#: 32

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C 28%, Mild Phenotype, No inhibitors present

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

Gene: F8

Variant: NM_000132.3(F8):c.6533G>A (p.Arg2178His)

ClinVar: 10319 https://www.ncbi.nlm.nih.gov/clinvar/variation/10319/

CAID: CA255212

gnomAD: MAF for Arg2178His in the African population 0.00007598<br>https://gnomad.broadinstitute.org/variant/X-154091399-C-T?dataset=gnomad_r2_1

ClinVarID:10319 CAID:CA255212 InheritancePattern:NoInheritanceAssertion Zygosity:NoZygosityAssertion Mutation:Missense ParentalTest:Unknown FVIIItesting:Partial DiseaseEntity:FactorVIIIDeficiency CaseInfo HGNC:3546 Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP

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