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: 8
KindredID: 1 (group ID 5)
Case: M, 48Y0M, 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 1, 17 members were described. The first generation describes 5 members with the VHL mutation, each passing on the gene to further generations. Patient 8’s father and sister had this familial mutation. His one son had not been yet tested at the time of the study. See Fig 4 for family pedigree; Table 3 for details.
CasePresentingHPOs: HP:0010797 (hemangioblastoma)
CaseHPOFreeText: He had CNS hemangioblastomas at 40Y
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