Hypothesis

8aCerebellum443 ins TCT77insLIn frame insertionNegativeNegative 8bCerebellum443 ins TCT77insLIn frame insertionNegativeNegative8cCerebellum443 ins TCT77insLIn frame insertionNegativeNegative 8dCerebellum443 ins TCT77insLIn frame insertionNegativeNegative

PatientID: 8 (tumour samples 8a, 8b, 8c, 8d)

KindredID: 8

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: A total of 42 CNS haemangioblastoma samples were obtained from 31 patients, who were consecutively treated between 1993 and 1997 at the Department of Neurosurgery of the Freiburg University Medical Centre.

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: Patient presented with 4 VHL-related tumors in the cerebellum (a,b,c,d).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.C77_N78insL (c.230_231insTCT)

CaseProblemVariantFreeText: N/A

LegacyVariant: p.77insL (c.443insTCT)

ClinVarID: N/A

CAID: CA2499214029 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.230_231insTCT

gnomAD: N/A

VariantEvidence: N/A

MutationType: inframe_insertion

CivicName: C77_N78insL (c.230_231insTCT)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma CAID:CA2499214029 ClinVarID:N/A ProteinPosition:77 cDNAposition:230 cDNAposition:231 CivicName:C77_N78insL(c.230_231insTCT) MutationType:inframe_insertion NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

Tags

Annotators

URL