Hypothesis

7/34/MClinical, geneticSingle-nucleotide deletion at nucleotide 739, protein truncating mutation++−+−

PatientID: 7

KindredID: 7

Case: F, 34Y0M, Caucasian

DiseaseAssertion: VHL

FamilyInfo: Positive VHL family history.

CasePresentingHPOs: HP:0001732, HP:0030393, HP:0007850, HP:0012210 (abnormality of the pancreas, retinal vascular proliferation, abnormal renal morphology)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0002011 (Morphological central nervous system abnormality

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData:N/A

Variant: p.R176G (c.526delA)

LegacyVariant: p.R176G (c.739delA)

CaseProblemVariantFreeText: N/A

ClinVarID: 625257 https://www.ncbi.nlm.nih.gov/clinvar/variation/625257/

CAID: CA16602180 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.526delA

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: R176G (c.526delA)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant DiseaseEntity:VHL Familial DiseaseEntity:abnormalityofthepancreas DiseaseEntity:abnormalrenalmorphology DiseaseEntity:Retinalvascularproliferation Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:526 ProteinPosition:176 AminoAcidChange:ARGtoGLY ClinVarID:625257 CAID:CA16602180 Ethnicity:Caucasian CivicName:R176G(c.526delA) MutationType:minus_1_frameshift_variant ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

Tags

Annotators

URL