p.R1374C
Case: p.R1374C, Male, Age 39, Caucasian
Disease Assertion: VWD2M
FamilyInfo: 25 family members tested, 1 with high bleeding score, some affected by VWD (number not defined)
Parental Genotype: Not listed
CasePresentingHPOs:
CaseHPOFreeText: VWF:RCo 12 IU/dL, VWF:GPIbM 18 U/dL, VWF:CB3 19 IU/dL, VWF:CB4 14 U/dL, VWF:RCo/VWF:Ag ratio 0.55
CaseNotHPOs: HP:0040240
(Increased Ratio of VWF Propeptide to VWF antigen)
CaseNotHPOFreeText:bleeding score 2, normal multimer distribution,VWF:Ag 22 IU/dL
Protein Expression:
CasePreviousTesting: VWF sequencing
Gene: VWF
Variant: NM_000552.4(VWF):c.4120C>T (p.Arg1374Cys)
ClinVar: 100329 ClinVarID
CAID: CA228539
gnomAD: MAF of 0.000008824 (1/113322 alleles) in the European (non-Finnish) population.