Hypothesis

GroupID/ KindredID: F26

Case: Sex unknown, 31Y0M, Spanish

DiseaseAssertion: assumed VHL

FamilyInfo: Noted of familial antecedents of phaeochromocytoma and CNS hemangioblastoma.

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

CaseHPOFreeText: Age of onset is 31Y0M.

CaseNotHPOs: HP:0006770; HP:0002666; HP:0006880; HP:0001737 (clear cell renal cell carcinoma, pheochromocytoma, cerebellar hemangioblastoma, pancreatic cysts, retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.D121G (c.362A>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223200 https://www.ncbi.nlm.nih.gov/clinvar/variation/223200/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: D121G (c.362A>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Spanish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst RefSeq:AF010238.1 ProteinPosition:121 CivicName:D121G(c.362A>G) cDNAposition:362 AminoAcidChange:ASPtoGLY MutationType:missense_variant;transition ClinVarID:223200 ClinVarID:Yes Familial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL