570 C>G 119 Phe>Leu Missense
PatientID: 1695
KindredID: 1695
Case: Sex Unknown, 38Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: N/A
CohortInfo: 44 patients with renal cell carcinoma who had known industrial exposure to trichloroethylene (TRI).
CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)
CaseHPOFreeText: The patient had TRI exposure at age 27 and was diagnosed with renal cell carcinoma at age 38.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.F119L(c.357C>G)
LegacyVariant: p.F119L(c.570C>G)
CaseProblemVariantFreeText: N/A
ClinVarID: 625240 https://www.ncbi.nlm.nih.gov/clinvar/variation/625240/?new_evidence=false
CAID: N/A
gnomAD: N/A
VariantEvidence: The patient had LOH.
MutationType: missense_variant;transversion
CivicName: C162Y(c.486C>G) and L188V(c.562C>G) and P81S(c.241C>T) and F119L(c.357C>G)
MultipleGeneVariants: Germline, VHL, c.241C>T (p.Pro81Ser), Somatic, VHL, c.486C>G (Cys162Trp) Somatic, VHL, c.562C>G (Leu188Val)