A study investigated paraganglioma/pheochromocytoma tumors in a retrospective cohort and a prospective cohort. Some of these tumors were found with germline VHL mutations. Tumour ID 47 was bilateral PCC and a germline c.467A>C mutation in the VHL gene. Other phenotypic and demographic information was not available.
2 Matching Annotations
- Last 7 days
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www.nature.com www.nature.com
- Oct 2026
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www.nature.com www.nature.com
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PatientID: 47
KindredID: 47
Case: Sex Unknown, Age Unknown, Ethnicity Unknown
DiseaseAssertion: Assumed VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0002666 (Pheochromocytoma)
CaseHPOFreeText: Bilateral pheochromocytoma.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: Patient information pulled from Supplemental Table 1b.
Variant: p.Y156S (c.467A>C)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA351756049
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transversion
CivicName: Y156S (c.467A>C)
MultipleGeneVariants: N/A
Tags
- AminoAcidChange:TYRtoSER
- NoFamilyInfo
- inferred_gene_source:CAID
- VHL Hypothesis Annotation
- Mutation:Germline
- DiseaseEntity:AssumedVHL
- InheritancePattern:AutosomalDominant
- CAID:CA351756049
- AssumedRefSeq:NM_000551.3
- inferred_gene_hgnc:12687
- DiseaseEntity:pheochromocytoma
- cDNAposition:467
- SupplementalData
- ProteinPosition:156
- CivicName:Y156S(c.467A>C)
- ClinVarID:N/A
- MutationType:missense_variant;transversion
Annotators
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