Hypothesis

PatientID: 11

KindredID: Unknown

Case: M, 38Y0M, Dutch

DiseaseAssertion: VHL

FamilyInfo: Unknown - study sampled 15 patients from 5 families

CasePresentingHPOs: HP:0001737; HP:0009711; HP:0006880; HP:0009713; HP:0000107; HP:0006706 (pancreatic cyst, retinal capillary hemangioma, cerebellar hemangioblastoma, spinal hemangioblastoma, renal cyst, cystic liver disease)

CaseHPOFreeText: retinal capillary hemangioma of the right eyes, pancreatic, renal and liver cysts (cystic liver disease), and cerebellar and spinal hemangioblastoma

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.V170D (c.509T>A)

LegacyVariant: p.V241D

CaseProblemVariantFreeText: Variant determined through the assumption of the authors using Latif et al 1993 (AF010238.1) transcript and adding 71bp to the protein sequence.

ClinVarID: 625256 https://www.ncbi.nlm.nih.gov/clinvar/variation/625256/

CAID: N/A

gnomAD: N/A

VariantEvidence:N/A

MutationType: missense_variant;transversion

CivicName: V170D (c.509T>A)

MultipleGeneVariants: N/A

DiseaseEntity:pancreaticcysts DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst DiseaseEntity:spinalhemangioblastoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:cysticliverdisease DiseaseEntity:VHL InheritancePattern:AutosomalDominant ClinVarID:N/A Mutation:Germline CivicName:V170D(c.509T>A) cDNAposition:509 ProteinPosition:170 AminoAcidChange:VALtoASP MutationType:missense_variant;transversion ClinVarID:625256 ClinVarID:Yes NoFamilyInfo Ethnicity:Dutch AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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