Hypothesis

nt 559 Ins. T* 116 FS 559insT Frameshift 1

PatientID: 20

GroupID/ KindredID: 20

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: hemangioblastoma

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: other phenotypes unknown.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.W117Lfs*15 (c.346_347insT)

LegacyVariant: p.116 (c.559insT)

CaseProblemVariantFreeText: Variant Validator also states: NM_000551.3:c.346_347insT automapped to NM_000551.3:c.349dupT due to the redundancy of T in this area. Therefore p.W117Lfs*15 (c.349dupT) is equivalent

ClinVarID: N/A

CAID: CA432421788 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346_347insT

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift_variant; duplication

CivicName: W117fs (c.349dupT)

MultipleGeneVariants: N/A

DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 CAID:CA432421788 ClinVarID:N/A NoFamilyInfo ProteinPosition:117 cDNAposition:346 cDNAposition:349 AminoAcidChange:TRPtoLEU MutationType:duplication cDNAposition:350 CivicName:W117fs(c.349dupT) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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