VHL1c.242C>Tp.Pro81Leu1RCB c
79 patients with head and neck paragangliomas were analyzed for SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, MAX, and TMEM127 genes by PCR/MLPA sequencing. Via peripheral blood leukocytes, 1 patient was found to have the above mutation (p.P81L (c.242C>T)), and presented with a right (non-secreting) carotid body paraganglioma. No family information was presented.
VHL1c.242C>Tp.Pro81Leu1RCB c
PatientID: N/A
KindredID: 2
Case: Sex Unknown, Age Unknown, Ethnicity Unknown
DiseaseAssertion: paraganglioma
FamilyInfo: N/A
CasePresentingHPOs: HP:0002668 (paraganglioma)
CaseHPOFreeText: Paraganglioma of the head and neck region (HNPGL): Right carotid body; nonsecreting paraganglioma
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: MAX, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.P81L (c.242C>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 36899 https://www.ncbi.nlm.nih.gov/clinvar/variation/36899
CAID: N/A
gnomAD: 0.000004349 https://gnomad.broadinstitute.org/variant/3-10183773-C-T
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: P81L (c.242C>T)
MultipleGeneVariants: N/A
Case 3 VHL 16 Female PHEO 2.5 None None Recurred NE/NM Exon 1 c.242C>T p.Pro81Leu Missense
PatientID: 3
KindredID: 3
Case: F, 16Y0M, Korean
DiseaseAssertion: pheochromocytoma
FamilyInfo: No family history of PPGLs
CasePresentingHPOs: HP:0002666 (pheochromocytoma)
CaseHPOFreeText: recurrent PPGL - initially removed at 2.5cm; no metastases; increased NE/NM hormone levels
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.P81L (c.242C>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 36899 https://www.ncbi.nlm.nih.gov/clinvar/variation/36899/
CAID: N/A
gnomAD: 0.000004349 https://gnomad.broadinstitute.org/variant/3-10183773-C-T
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: P81L (c.242C>T)
MultipleGeneVariants: N/A