Hypothesis

PatientID: 13

KindredID: 13

Case: M, 48Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009726; HP:0005562; HP:0010797 (Renal neoplasm,Multiple renal cysts, Hemangioblastoma)

CaseHPOFreeText: Patient 13 was a 48-year-old male with a medical history of synchronous bilateral solid renal tumors, multiple renal cysts, CNS hemangioblastoma.

CaseNotHPOs:None

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.C162W (c.486C>G)

LegacyVariant: c.699C>G

CaseProblemVariant Free Text: N/A

ClinVar: 223227, https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/

CAID: CA357016

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_transversion

CivicName: C162W(c.486C>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:VHL DiseaseEntity:renalneoplasm DiseaseEntity:hemangioblastoma DiseaseEntity:multiplerenalcysts Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:486 ProteinPosition:162 AminoAcidChange:CYStoTRP ClinVarID:223227 CAiD:CA357016 MutationType:missense_variant;transversion CivicName:C162W(c.486C>G) Familial ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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