Hypothesis

1 inframe insertion

PatientID: 26

KindredID: 31

Case: Sex unknown, Age unknown, French

DiseaseAssertion: VHL

FamilyInfo: None

CasePresentingHPOs: HP:0005584; HP:0030405 (renal cell carcinoma, pancreatic endocrine tumour)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0002666 (pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R177_L178ins6 (c.531_532ins18)

LegacyVariant: N/A

CaseProblemVariantFreeText: Stated in the paper as: p.R177_L178ins6 (c.531_532ins18) - NM_000551.3:c.531_532ins18: char 24: Syntax error - due to it's non specific nomenclature. (Can't verify coordinates of specific insertion).

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: inframe_insertion

CivicName: R177_L178ins6 (c.531_532ins18)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Ethnicity:French Mutation:Germline AssumedRefSeq:NM_000551.3 NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticendocrinetumor CAID:N/A ClinVarID:N/A UnregisteredVariant MutationType:inframe_insertion ProteinPosition:177 cDNAposition:531 CivicName:R177_L178ins6(c.531_532ins18) inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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