Hypothesis

6/34/FClinical, geneticMissense mutation in codon 78, exon 1, asparagine to aspartic acid substitution++++Epididymal cyst

PatientID: 6

KindredID: 6

Case: F, 34Y0M, Caucasian

DiseaseAssertion: VHL

FamilyInfo: Positive VHL family history.

CasePresentingHPOs: HP:0002011, HP:0001732, HP:0007850, HP:0012210, HP:0030424 (Morphological central nervous system abnormality, abnormality of the pancreas, retinal vascular proliferation, abnormal renal morphology, epididymal cyst)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.N78D (c.232A>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 625226 https://www.ncbi.nlm.nih.gov/clinvar/variation/625226/

CAID: CA351749284 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.232A%3EG

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: N78D (c.232A>G)

MultipleGeneVariants: N/A

MutationType:missense_variant;transition InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:Morphologicalcentralnervoussystemabnormality DiseaseEntity:abnormalityofthepancreas DiseaseEntity:abnormalrenalmorphology DiseaseEntity:Retinalvascularproliferation DiseaseEntity:epididymalcyst Mutation:Germline cDNAposition:232 AminoAcidChange:ASNtoASP ProteinPosition:78 CivicName:N78D(c.232A>G) CAID:CA351749284 ClinVarID:625226 Familial Ethnicity:Caucasian AssumedRefSeq:AF010238.1 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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