Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.
PatientID: III-7
KindredID: 3
Case: F, Age Unknown, Chinese
DiseaseAssertion: asymptomatic
FamilyInfo: The transition mutation was found and confirmed in this patient’s mother (II-3) and 2 carriers, her, and her first-cousin once removed (III-7, IV-2). 5 additional members had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.
CasePresentingHPOs: N/A
CaseHPOFreeText: Stated as carrier, however she is young (likely before the age of onset)
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.L116V (c.346C>G)
LegacyVariant: p.L116V (c.559C>G)
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transversion
CivicName: L116V (c.346C>G)
MultipleGeneVariants: N/A