Case#: 88 ITP patients

DiseaseAssertion: Immune thrombocytopenia

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Real-Time PCR with sequence-specific primers was used to assess the CTLA-4 genotype

GenotypingMethod: Real-Time PCR with sequence-specific primers was used to assess the CTLA-4 genotype.

PreviouslyPublished: No

Variant: NM_005214.5:c.49A>G

ClinVar: 16921

CAID: CA126974

gnomAD: 0.6450 https://gnomad.broadinstitute.org/variant/2-203867991-A-G?dataset=gnomad_r4

Variant: NC_000002.12:g.203874196G>A

ClinVar: 16922

CAID: CA11297605

gnomAD: 0.6078 https://gnomad.broadinstitute.org/variant/2-203874196-G-A?dataset=gnomad_r3