two new mutations
PatientID: 1
KindredID: B
Case: M, 35Y0M, Japanese
DiseaseAssertion: Assumed VHL
FamilyInfo: The patient’s family consisted of three members, but only the patient carried the missense variant NM_000551.3:c.227_229delTCT and developed symptoms; the patient’s parents did not. The authors of the paper assert that this was a novel mutation.
CasePresentingHPOs: HP:0006880; HP:0011513 (Cerebellar hemangioblastoma, retinal angioma)
CaseHPOFreeText: This patient developed brainstem hemangioblastoma and retinal angioma when he was 30 years old. Thereafter, he had no sign of recurrence for 5 years.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.F76del(c.227_229delTCT)
LegacyVariant: p.F147del(c.440_442delTCT)
ClinVarID: N/A
CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA357012
gnomAD: N/A
VariantEvidence: N/A
MutationType: inframe_deletion
CivicName: F76del(c.227_229delTCT)
MultipleGeneVariants: N/A