VHL mutation c. 232A>T; p. Asn78Tyr in this patient. The same point mutation of VHL was identified in three family members including one sister
PatientID: N/A (proband's sister)
KindredID: 2
Case: F, 40Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: The same point mutation of VHL (c. 232A>T; p.Asn78Tyr) was identified in three family members including one sister, one brother and one nephew. Her sister was found with adrenal pheochromocytoma, cerebellar hemangioblastoma, and her brother and nephew refused for further examinations for VHL-related lesions. Her mother died of stroke at early of 50 years.
CasePresentingHPOs: HP:0030405 (pancreatic endocrine tumour)
CaseHPOFreeText: patient died of the hemorrhagic stroke at age of 40 years.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.N78Y (c.232A>T)
LegacyVariant: N/A
ClinVar: 223167 https://www.ncbi.nlm.nih.gov/clinvar/variation/223167/
CAID: CA357056 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.232A%3ET
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transversion
CivicName: N78Y (c.232A>T)
MultipleGeneVariants: N/A