Hypothesis

55 16 c.307C>G p.Pro103Ala x Familial Parents No

PatientID: 55

KindredID: 55

Case: Sex Unknown, 16Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Variant was transmitted from a parent (both parents were analyzed) but it is unclear which parent was positive for the variant.

CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0000107; HP:0006770; HP:0010797; HP:0001732; HP:0009711 (Renal cyst, Clear cell renal cell carcinoma, Hemangioblastoma, Abnormality of the pancreas, Retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Table S1, S2 and S3

Variant: p.P103A (c.307C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 219823, https://www.ncbi.nlm.nih.gov/clinvar/variation/219823/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: P103A (c.307C>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:307 ProteinPosition:103 AminoAcidChange:PROtoALA ClinVarID:219823 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P103A(c.307C>G) NoFamilyInfo Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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