c.904C>A
Case#: Functional assay variant with a clinical significance of being a VUS.
DiseaseAssertion: MPS-I
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: N/A
CaseBMT: N/A
Variant1: c.904C>A (p.P302T)
Variant1ClinVarID: 1067236
Variant1CAID: CA355962529
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
3
Case#: Infant 3
DiseaseAssertion: N/A
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: 2.18 nmol/h/mg; normal range, 6-71.4 nmol/h/mg
CaseUrineGAGs: 25.49 mg/mmol creatinine; normal ranges, 0-53 mg/mmol creatinine
CaseERT: N/A
CaseBMT: N/A
Variant1: c.900G>A (p.A300=) homozygous for this variant + homozygous with a 2nd variant
Variant1ClinVarID: 1107522
Variant1CAID: CA438057521
Variant2: c.904C>A (p.P302T) homozygous for this variant + the first variant
Variant2ClinVarID: 1067236
Variant2CAID: CA355962529
AdditionalVariants: N/A
ParentalGenotype: c.900G>A (homozygous); c.904C>A (homozygous)
PreviouslyPublished N/A