Hypothesis

nt 529 Ins.GCC1-150 106Ins. Arg529ins3In-frame ins1

PatientID: 16

GroupID/ KindredID: 16

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: hemangioblastoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: other phenotypes unknown.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R108dup (c.322_324dupCGC)

LegacyVariant: Ins. Arg (c.529insGCC)

CaseProblemVariantFreeText: AF010238.1: Ins. Arg (c.529insGCC) translates to: NM_000551.3:c.316_317insGCC which automaps to NM_000551.3:c.322_324dupCGC due to the 3’ rule, so the two are both consistent and possible with this mutation

ClinVarID: N/A

CAID: CA916832608 https://reg.genome.network/redmine/projects/registry/genboree_registry/by_caid?caid=CA916832608

gnomAD: N/A

VariantEvidence: N/A

MutationType: duplication

CivicName: R108dup (c.322_324dupCGC)

MultipleGeneVariants: N/A

CAID:CA916832608 ClinVarID:N/A DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 NoFamilyInfo ProteinPosition:108 cDNAposition:225 MutationType:duplication CivicName:R108dup(c.322_324dupCGC) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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