The novel heterozygous nonsense amber mutation (c.555C > A) was detected in Patient D
PatientID: 6
KindredID: 4 (D)
Case: M, 25Y0M, Hungarian
DiseaseAssertion: VHL
FamilyInfo: Patient was the only available member of the family. His father had died several years ago due to a central nervous system tumour, probably a complication of VHL disease
CasePresentingHPOs: HP:0006880; HP:0009713; HP:0006770 (cerebellar hemangioblastoma, spinal hemangioblastoma, clear cell renal cell carcinoma)
CaseHPOFreeText: Cerebellar and spinal cord hemangioma diagnoses.
CaseNotHPOs: HP:0002666; HP:0009711 (pheochromocytoma, retinal capillary hemangioma)
CaseNotHPOFreeText: No other manifestations of VHL disease were detected. See table 1.
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.Y185* (c.555C>A)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVar: N/A
CAID: CA351756378 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.555C%3EA
gnomAD: N/A
VariantEvidence: N/A
MutationType: stop_gained
CivicName: T185* (c.555C>A)
MultipleGeneVariants: N/A