1 Partial deletion Deletion of exon 1 and 2 1 0
GroupID: 1
DiseaseAssertion: VHL
Group size: 1
GroupNumberMales: N/A
GroupNumberFemales: N/A
GroupEthnicity: N/A
GroupAgeRange: N/A
Group Info: Retrospective analysis of a longitudinal cohort of 21 VHL germline mutation carriers and retinal haemangioblastomas. All patients were categorized in two genotypic categories: missense mutations and truncating mutations.
GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)
GroupHPOFreeText: The patient presented with retinal capillary hemangioma.
GroupNotHPOs: N/A
GroupNotHPOFreeText: N/A
GroupPreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Table S1
Variant: Exon 1-2 deletion
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: N/A
CAID: N/A
gnomAD: N/A
VariantEvidence: Chr3(GRCh37): g.10182301_10188764del; c.-1231_463+444del6464
MutationType: exon_loss_deletion
CivicName: Exon 1-2 deletion
MultipleGeneVariants: N/A