154G→A Ts Exon 1 52 GAG E E52K
A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeared higher in patients who had a substitution when compared with patients with a truncated protein. Detected by PCR and SSCP, the missense mutation (E52K (c.154G>A)) was found in a single patient with no VHL retinal manifestation.
154G→A Ts Exon 1 52 GAG E E52K
GroupID: 2
Case: Age unknown, Sex unknown, French
DiseaseAssertion: VHL
FamilyInfo: None - one member documented here
CasePresentingHPOs: N/A
CaseHPOFreeText: Manifestations are possibly but not clearly reported
CaseNotHPOs: HP:0009711 (retinal capillary hemangioma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.E52K (c.154G>A)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 161402 https://www.ncbi.nlm.nih.gov/clinvar/variation/161402/
CAID: N/A
gnomAD: 0.00008525 https://gnomad.broadinstitute.org/variant/3-10183685-G-A
VariantEvidence: N/A
MutationType: missense_variant; transition
CivicName: E52K (c.154G>A)
MultipleGeneVariants: N/A