Hypothesis

S3135F?? ?-- - -c.214 T[Cp.S72P

PatientID:1

KindredID: S3

Case: F, 35Y0M, Indian

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0001737, HP:0010797 (Pancreatic cysts, Hemangioblastoma)

CaseHPOFreeText: multi-cystic pancreatic lesions and CNS hemangioblastoma

CaseNotHPOs: HP:0009711, HP:0005584, HP:0002666, HP:0030393 (Retinal capillary hemangioma, renal cell carcinoma, pheochromocytoma, endolymphatic sac tumor)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.S72P (c.214T>C)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223163 https://www.ncbi.nlm.nih.gov/clinvar/variation/223163/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_transition

CivicName: S72P(c.214T>C)

MultipleGeneVariants: N/A

DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:214 ProteinPosition:72 AminoAcidChange:SERtoPRO ClinVarID:223163 MutationType:missense_variant;transition CivicName:S72P(c.214T>C) DiseaseEntity:pancreaticcysts DiseaseEntity:hemangioblastoma InheritancePattern:AutosomalDominant Ethnicity:Indian ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation

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