We observed 10 different intragenic mutations in 10/15 (66.7%) patients: five missense mutations
PatientID: 9
KindredID: 9
Case: M, 39Y0M, Korean
DiseaseAssertion: VHL
FamilyInfo: None: Among missense mutations observed in our patients, 486C>G (C162W) was reported in Caucasian type 2 VHL families, but no member with pheochromocytoma has been found in this patient's families
CasePresentingHPOs: HP:0010797 (hemangioblastoma)
CaseHPOFreeText: Multiple involvements of the CNS HB. 'Other' phenotypes found in patient. These are noted in the paper to include: pancreatic neuroendocrine tumors (PNETs), renal and pancreatic cysts and central nervous system tumors, although it is not clearly stated that patient 1 has all. (See Table 1).
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: Previously reported, HGMD (Human Gene Mutation Database) [Refer to table 2].
SupplementalData: N/A
Variant: p.C162W (c.486C>G)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVar: 223227 https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/
CAID: CA357016 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.486C%3EG
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transversion
CivicName: C162W (c.486C>G)
MultipleGeneVariants: N/A