Hypothesis

20M/21FSUnilateral PCCRetinal angiomas CNS haemangioblastomas, pancreatic cystsFamily history+VHL3c.479A>T (Novel)p.(Glu160Val)Substitution (missense)Disease causing

PatientID: 20

KindredID: 20

Case: M, 21Y0M, Asian Indian

DiseaseAssertion: assumed VHL

FamilyInfo: Positive family history

CasePresentingHPOs: HP:0002666; HP:0009711; HP:0010797; HP:0001737 (pheochromocytoma; retinal capillary hemangioma; hemangioblastoma; pancreatic cysts)

CaseHPOFreeText: unilateral pheochromocytoma, retinal angiomas, CNS hemangioblastoma and pancreatic cysts

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.E160V (c.479A>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVarID: 219157 https://www.ncbi.nlm.nih.gov/clinvar/variation/219157/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: E160V (c.479A>T)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticcysts DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma AssumedRefSeq:NM_000551.3 ProteinPosition:160 cDNAposition:479 MutationType:missense_variant;transversion AminoAcidChange:GLUtoVAL CivicName:E160V(c.479A>T) ClinVarID:219157 ClinVarID:Yes Familial Mutation:Germline Ethnicity:SouthAsian PreviousTesting:NF1/RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL