Hypothesis

c.6623A>G

Case#: 34

DiseaseAssertion: Hemophilia A

FamilyInfo: NA

ParentalTesting: NA

CasePresentingHPOs: NA

CaseHPOFreeText: FVIII:C 23%, 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.6623A>G (p.Gln2208Arg)

ClinVar: 368117 https://www.ncbi.nlm.nih.gov/clinvar/variation/368117/

CAID: CA10567784

gnomAD: MAF for Gln2208Arg in the European (non-Finnish) population 0.00004320<br>https://gnomad.broadinstitute.org/variant/X-154090093-T-C?dataset=gnomad_r2_1

ClinVarID:368117 DiseaseEntity:FactorVIIIDeficiency Mutation:Missense Zygosity:NoZygosityAssertion CAID:CA10567784 ParentalTest:Unknown FVIIItesting:Partial InheritancePattern:NoInheritanceAssertion HGNC:3546 CaseInfo Gene:F8 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP

Tags

Annotators

URL