In our study, group 5 represented the c.262T > C p.Trp88Arg mutation that included 21 patients from 2 families (Figure 4 and Table 3). Variability was observed in the mean age at onset for CHB and RCC, which were 41.1 ± 9.1 (range = 29–62) and 37.4 ± 12.9 (range = 23–65), respectively.
PatientID: 3
KindredID: 2 (group ID 5)
Case: M, 52Y0M, Chinese
DiseaseAssertion: assumed VHL
CohortInfo: Clinical characteristics of 258 patients from 80 unrelated Chinese families were reported in this study. Grouped by the 21 mutations found, 2 families with 21 members total were described, and phenotypic information was given for this group.
FamilyInfo: In family 2, 4 members were described in a 3 generation family. The patient’s father, sister, and niece were also present with the VHL mutation. See Fig 4 for family pedigree; Table 3 for details.
CasePresentingHPOs: HP:0010797; HP:0002666 (hemangioblastoma, pheochromocytoma)
CaseHPOFreeText: CNS hemangioblastoma and pheochromocytoma both presented at age of onset of 50Y
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.W88R (c.262T>C)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 496053 https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: W88R (c.262T>C)
MultipleGeneVariants: N/A