Hypothesis

Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

GroupID/ KindredID: 113CA

DiseaseAssertion: VHL

GroupSize: N/A

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: N/A

GroupAgeRange: N/A

GroupInfo: This germline familial VHL mutation was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to family ID Family 113CA. Table 5 lists all ID and mutations associated with individuals without detailed clinical information.

GroupPresentingHPOs: N/A

GroupHPOFreeText: Described as a VHL family without detailed clinical information. Other phenotypes are possible, however not detailed here.

GroupNotHPOs: N/A

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.E186del (c.558_560del)

LegacyVariant: delGlu (c.771_773delGlu)

CaseProblemVariantFreeText: N/A

ClinVarID: 625264 https://www.ncbi.nlm.nih.gov/clinvar/variation/625264/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: inframe_deletion

CivicName: E186del (c.558_560delAGA)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:VHL cDNAposition:558 cDNAposition:560 CivicName:E186del(c.558_560delAGA) ProteinPosition:186 MutationType:inframe_deletion ClinVarID:625264 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation

Tags

Annotators

URL