2015MbPCC––NoNoVHLc.500G>Abp.(Arg167Gln)Yesc
PatientID: 20
KindredID: 5
Case: M, 15Y0M, Spanish
DiseaseAssertion: VHL
FamilyInfo: The patient had first-degree familial antecedents.
CohortInfo: 36 pediatric patients with pheochromocytomas and/or parangangliomas.
CasePresentingHPOs: HP:0002666 (pheochromocytoma)
CaseHPOFreeText: The patient had a benign bilateral pheochromocytoma at age 15.
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient did not have any other tumours.
CasePreviousTesting: RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX
PreviouslyPublished: Yes source unknown.
SupplementalData: N/A
Variant: p.R167Q (c.500G>A)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/
CAID: N/A
gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A
VariantEvidence:N/A
MutationType: missense_variant;transition
CivicName: R167Q (c.500 G >A)
MultipleGeneVariants: N/A


