Hypothesis

frameshift mutations (4/16)

PatientID: 7

KindredID: 7

Case: 23Y0M, Sex Unknown, Argentinian

DiseaseAssertion: VHL

FamilyInfo: Thus far, it has not been possible to study the parents or close relatives of this patient.

CasePresentingHPOs: HP:0009711; HP:0000107 (retinal capillary hemangioma; renal cyst)

CaseHPOFreeText: Aged 22Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. Bilateral retinal hemangioblastomas diagnosed at 22Y, and renal cysts were diagnosed at 23Y (See Table 1 & 2).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.Q132Hfs*45 (c.343_395dup)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA2497030272 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497030272

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_2_frameshift_variant; duplication

CivicName: Q132Hfs*45 (c.343_395dup)

MultipleGeneVariants: N/A

Ethnicity:Argentinian DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:23 AgeOfPresentation:retinalcapillaryhemangioma:22 Mutation:Germline RefSeq:NM_000551.3 AminoAcidChange:GLNtoHIS ProteinPosition:132 cDNAposition:343 MutationType:duplication MutationType:plus_2_frameshift_variant CivicName:Q132Hfs*45(c.343_395dup) CAID:CA2497030272 ClinVarID:N/A ExperimentalAssay NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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