PatientID: 4

KindredID: 4

Case: F, 24Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: Family history involved.

CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma, retinal capillary hemangioma)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.F75Yfs*57 (c.222_223insT)

CaseProblemVariantFreeText: paper states 2 mismatched protein changes vs cDNA changes: c.223_224insT matches with p.F76Lfs*56. To get the given protein sequence they use: p.I75fs, the mutation should be c.222_223insT.

LegacyVariant: N/A

ClinVar: N/A

CAID: CA2499306953 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499306953

gnomAD: N/A

VariantEvidence: N/A

MutationType: plus_1_frameshift_variant

CivicName: F76Lfs*56 (c.224dup)

MultipleGeneVariants: N/A

2222

这个是这个页面的note

DOI: 10.1158/1078-0432.CCR-20-3871

Resource: (IMSR Cat# NIG_222,RRID:IMSR_NIG:222)

Curator: @scibot

SciCrunch record: RRID:IMSR_NIG:222

What is this?

This is great information for travelers as they often have many questions about where to carry their medications and whether or not they need to be documented in the checked luggage.

222

Second Witch at 222..234