31 16 F 8 c.903T.Ap.Y301* C. 6.5 4 6 - +22 c.2878C.T,c.2880G.Ap.R960* Htz
Case: 31, F, 16 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 6.5, VWF:Ag (U/dl): 4, Bleeding Score: 6
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.903T>A (p.Tyr301*), Exon 8
c.2878C>T, c.2880G>A (p.Arg960*), Exon 22
Compound Heterozygous
Case#: 37005, Age 39, Female, Blood Type O+ (Table S3)
Disease Assertion: VWD 1
FamilyInfo: The patient is the only member of Family#3705.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding Score 9, VWF:Ag:26, VWF:RCo: 18, FVIII:C: 44, VWF:CB: 18
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.2878C>T (p.Arg960Trp)
ClinVar: N/A
CAID: CA6402916 CAID
gnomAD: MAF of 0.0004900 (50/ 30612 alleles) in the South Asian population. gnomAD