Hypothesis

c.191G>Cp.Arg64Pro135Unifocal (Adrenal)Syndromic

PatientID: None

KindredID: 6

Case: Sex Unknown, 35Y0M, Southeast Asian

DiseaseAssertion: VHL

FamilyInfo: Positive family history for VHL.

CohortInfo: This study retrospectively reviewed 124 consecutive patients with pheochromocytoma and paraganglioma that were seen in Singapore General Hospital, between 2005 and 2016.

CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

CaseHPOFreeText: Presented with a unifocal adrenal pheochromocytoma at age 35.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET, VHL, NF1, SDHA, SDHB, SDHD, SDHAF2, TMEM127

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R64P(c.191G>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2226 https://www.ncbi.nlm.nih.gov/clinvar/variation/2226/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: R64P(c.191G>C)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:SoutheastAsian Familial DiseaseEntity:adrenalpheochromocytoma ageofpresentation:adrenalpheochromocytoma:35 MutationType:missense_variant;transversion Mutation:Germline ProteinPosition:64 CivicName:R64P(c.191G>C) cDNAposition:191 ClinVarID:2226 ClinVarID:Yes AssumedRefSeq:NM_000551.3 PreviousTesting:RET/NF1/SDHA/SDHB/SDHD/SDHAF2/TMEM127 AminoAcidChange:ARGtoPRO inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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