Hypothesis

PatientID: 3087

KindredID: 1

Case: M, 68Y0M, Ethnicity Unknown

DiseaseAssertion: Clear cell renal cell carcinoma

FamilyInfo: N/A

GroupInfo: Renal cell carcinomas from 31 patients (22 of which were confirmed clear cell renal cell carcinoma) were obtained from the CentreLeon Berard (Lyon, France) and were analyzed for mutations in the VHL gene.

CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

CaseHPOFreeText: Metastatic tumor at time of nephrectomy. See table 1 for more patient-specific information.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.L184P (c.551T>C)

LegacyVariant: c.764T>C

CaseProblemVariantFreeText: N/A

ClinVarID: 419447, https://www.ncbi.nlm.nih.gov/clinvar/variation/419447/

CAID: CA16617792

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: L184P (c.551T>C)

MultipleGeneVariants: Germline, VHL, c.183C>G (p.P61=)

ProteinPosition:184 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition CivicName:L184P(c.551T>C) MultipleVHLVariants cDNAposition:551 DiseaseEntity:renalcellcarcinoma DiseaseEntity:clearcellrenalcellcarcinoma RefSeq:AF010238.1 ClinVarID:419447 CAiD:CA16617792 NoFamilyInfo ClinVarID:Yes Mutation:Somatic inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

Tags

Annotators

URL