Hypothesis

c. 593 T>Aap.L198Q

GroupID: 29A

DiseaseAssertion: VHL

GroupSize: 2

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: 2 VHL patients with the given VHL mutation and manifestation were grouped in this study.

GroupPresentingHPOs: HP:0030405 (pancreatic endocrine tumor)

GroupHPOFreeText: Patients have islet cell tumors (ICTs), or listed as pancreatic endocrine tumor. Other clinical manifestations outside of a pancreatic neuroendocrine tumor are possible, but were not discussed.

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L198Q (c.593T>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 1066145 https://www.ncbi.nlm.nih.gov/clinvar/variation/1066145/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: L198Q (c.593T>A)

MultipleGeneVariants: N/A

DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor Mutation:Germline NoFamilyInfo ClinVarID:1066145 ClinVarID:Yes RefSeq:NM_000551.2 cDNAposition:593 CivicName:L198Q(c.593T>A) AminoAcidChange:LEUtoGLN ProteinPosition:198 MutationType:missense_variant;transversion inferred_gene_hgnc:9081 inferred_gene_source:ClinVar VHL Hypothesis Annotation

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