Hypothesis

235 (CAG-TAG)1 (1)163HBr, HBc, HBsc, RCC, Cr

GroupID: None

Case: Sex Unknown, 63Y0M, Dutch

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009711, HP:0006880, HP:0009713, HP:0005584, HP:0000107 (Retinal capillary hemangioma, Cerebellar hemangioblastoma, Spinal hemangioblastoma, Renal cell carcinoma, Renal cyst)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This cohort was published later in PMID 31087189

SupplementalData: N/A

Variant: p.R79C (c.235C>T)

LegacyVariant: c.235 (CAG-TAG)

CaseProblemVariantFreeText: written in the publication as c.235 (CAG-TAG), deduced to c.235C>T: p.Arg79Cys updated nomenclature

ClinVarID: 161400 https://www.ncbi.nlm.nih.gov/clinvar/variation/161400/

CAID: N/A

gnomAD: 0.00002168, https://gnomad.broadinstitute.org/variant/3-10183766-C-T

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: R79C (c.235C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Dutch DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:renalcyst ClinVarID:161400 ClinVarID:Yes NoFamilyInfo ProteinPosition:79 AminoAcidChange:ARGtoCYS cDNAposition:235 CivicName:R79C(c.235C>T) MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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