The c.640T>G germline variant, leading to a protein extension with the addition of a tail of 13 new amino acids, was found in a patient affected with a single pheochromocytoma at 67 years old.
PatientID: 88
KindredID: 88
Case: Sex Unknown, 67Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0002666 (Pheochromocytoma)
CaseHPOFreeText: Single pheochromocytoma.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Patient information pulled from Supplemental Table 1. There is additional tumour specific information in Supplemental Table 2.
Variant: p.214Gext14 (c.640T>G)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA351756720
gnomAD: N/A
VariantEvidence: Membrane CA9 immunostaining was observed (supplemental table 1).
MutationType: missense_variant;transversion; stop_lost
CivicName: 214Gext14 (c.640T>G)
MultipleGeneVariants: N/A