Hypothesis

Family 3−1c.185insAGCAdelTGCTGCGCTYes135–3636––

PatientID: None

KindredID: 3

Case: Unknown, 36Y0M, Chinese

DiseaseAssertion:VHL

FamilyInfo: None.

CasePresentingHPOs: HP:0010797, HP:0005584, HP:0001732 (hemangioblastoma, renal cell carcinoma, abnormality of the pancreas)

CaseHPOFreeText:The patient presented with hemangioblastoma at age 35. One year later he was found to have renal cell carcinoma and pancreatic cysts or tumors.

CaseNotHPOs: HP:0009711, HP:0002666 (retinal capillary hemangioma, pheochromocytoma)

CaseNotHPOFreeText: No epididymal/ovarian cystadenomas.

CasePreviousTesting: N/A

PreviouslyPublished: 29330336

Variant: p.V62Efs*68 (c.185_193delTGCTGCGCTinsAGCA)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID:N/A

CAID: CA2499306941 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499306941

gnomAD:N/A

VariantEvidence: N/A

MutationType: delins

CivicName:V62Efs*68 (c.185_193delTGCTGCGCTinsAGCA)

MultipleGeneVariants: N/A

mutationtype:delins InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 Ethnicity:Chinese DiseaseEntity:VHL NonFamilial DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:Hemangioblastoma:35 AgeOfPresentation:renalcellcarcinoma:36 AgeOfPresentation:abnormalityofthepancreas:36 cDNAposition:185 ProteinPosition:62 AminoAcidChange:VALtoGLU CAID:CA2499306941 ClinVarID:N/A CivicName:V62Efs*68(c.185_193delTGCTGCGCTinsAGCA) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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