Hypothesis

not only showed loss of the open-reading frame, but more extended deletions by using c11 and P1 demonstrating complete loss of the VHL gene sequence (>35 kb, but <90 kb)

PatientID: 2

KindredID: 2

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: Hemangioblastoma

FamilyInfo: None

CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: deletion (deletion on chromosome 3 (>35kb, <90kb) resulting in complete loss of VHL gene)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: germline deletion on chromosome 3 (>35kb, <90kb) resulting in complete loss of VHL gene. Hemangioblastoma from this patient shows a missense mutation R200W(c.598C>T) in the second copy of VHL gene.

MutationType: deletion

CivicName: Deletion AND R200W (c.598C>T)

MultipleGeneVariants: Somatic, VHL, c.598C>T (p.Arg200Trp)

DiseaseEntity:hemangioblastoma MultipleVHLVariants CivicName:DELETION MutationType:deletion ClinVarID:N/A NoFamilyInfo ExperimentalAssay Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:DeletionANDR200W(c.598C>T) UnregisteredVariant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

Tags

Annotators

URL