detected point germline vhl mutations in 14 patients
PatientID: 1
KindredID: 1
Case: 11Y0M, sex unknown, ethnicity unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma; retinal capillary hemangioma)
CaseHPOFreeText: See Table 1&2 for retinal capillary hemangioma information
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.N150Ifs*9 (c.446delC)
CaseProblemVariantFreeText: Paper reports this as a c.446delG mutation, however a C is positioned at c.446
LegacyVariant: N/A
ClinVarID: N/A
CAID: CA432421904 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.446del
gnomAD: N/A
VariantEvidence: paper mistake of "c.446 del G" should rather be 446 del C.
MutationType: minus_1_frameshift_variant
CivicName: N150fs (c.446delC)
MultipleGeneVariants: N/A