Hypothesis

Leu163Phe (700C-T)

PatientID: (proband)

KindredID: 3

Case: M, Age unknown, Chinese

DiseaseAssertion: pheochromocytoma

FamilyInfo: There is a history of non-syndromic familial pheochromocytoma in this patient’s family history, however their relatives were not available for the study. It is not perfectly clear which pedigree belongs to this family.

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: non-syndromic pheochromocytoma

CaseNotHPOs: N/A

CaseNotHPOFreeText: No clinical manifestations of hereditary syndromes, including MEN2A, MEN2B, VHL, and NF1 were found

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L163F (c.487C>T)

LegacyVariant: p.L163F (c.700C>T)

CaseProblemVariantFreeText: N/A

ClinVarID: 480772 https://www.ncbi.nlm.nih.gov/clinvar/variation/480772/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: L163F (c.487C>T)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:pheochromocytoma AssumedRefSeq:AF010238.1 Mutation:Germline cDNAposition:487 CivicName:L163F(c.487C>T) AminoAcidChange:LEUtoPHE ProteinPosition:163 MutationType:missense_variant;transition ClinVarID:480772 ClinVarID:Yes Familial FamilyPedigree inferred_gene_hgnc:8787 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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