Tyr156Cys
GroupID: 7
DiseaseAssertion: Neuroendocrine neoplasm (pheochromocytoma or paraganglioma)
GroupSize: 7
GroupNumberMales: N/A
GroupNumberFemales: N/A
GroupEthnicity: Ethnicity unknown
GroupAgeRange: N/A
GroupInfo: This mutation (p.Y156C (c.467A>G)) was found in 7 patients, 3 with a family history and/or a syndromic presentation and 4 with apparently sporadic presentation. 1 of the apparently sporadic patients was previously reported.
GroupPresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)
GroupHPOFreeText: Patients with a pheochromocytoma or a functional paraganglioma were recruited from several different French clinical centers participating in several clinical research networks (Cortico et Medullosurrènale: les Tumeurs Endocrines, Paragan-Glioma Network, Groupe des Tumeurs Endocrines)
GroupNotHPOs: N/A
GroupNotHPOFreeText: N/A
GroupPreviousTesting: N/A
PreviouslyPublished: 1 of the apparently sporadic patients was previously reported.
SupplementalData: N/A
Variant: p.Y156C (c.467A>G)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 43600 https://www.ncbi.nlm.nih.gov/clinvar/variation/43600/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transition
CivicName: Y156C (c.467A>G)
MultipleGeneVariants: N/A