Hypothesis

c.1345C>T

Case#: 43

DiseaseAssertion: Hemophilia B

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FIX:C 30% (Mild Phenotype)

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: F9

Variant: NM_000133.3(F9):c.1345C>T (p.Arg449Trp)

ClinVar: 626990 https://www.ncbi.nlm.nih.gov/clinvar/variation/626990/

CAID: CA10529890

gnomAD: MAF for Arg449Trp in the European (non-Finnish) population 0.00006494<br>https://gnomad.broadinstitute.org/variant/X-138644189-C-T?dataset=gnomad_r2_1

ClinVarID:626990 CAID:CA10529890 DiseaseEntity:FactorIXDeficiency InheritancePattern:NoInheritanceAssertion FIXtesting:Partial ParentalTest:Unknown Zygosity:NoZygosityAssertion Mutation:Missense CaseInfo HGNC:3551 Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP

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