CCR5-Δ32

GPTKB entity

Statements (25)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects CCR5 gene
gptkbp:alleleFrequencyHighIn Northern European populations
gptkbp:alleleFrequencyLowIn gptkb:East_Asian_populations
gptkb:African_populations
gptkbp:associatedWith increased risk of West Nile virus infection
increased risk of severe influenza
gptkbp:cause truncated CCR5 protein
gptkbp:discoveredIn 1996
gptkbp:heterozygousIndividualsAre partially resistant to HIV-1
gptkbp:homozygousIndividualsAre highly resistant to HIV-1
https://www.w3.org/2000/01/rdf-schema#label CCR5-Δ32
gptkbp:inheritsFrom autosomal recessive trait
gptkbp:lengthOfDeletion 32 base pairs
gptkbp:locatedOnChromosome chromosome 3p21
gptkbp:mutationAssociatedWith deletion
gptkbp:notableFor Berlin patient
London patient
gptkbp:resistantTo HIV-1 infection
gptkbp:result nonfunctional CCR5 receptor
gptkbp:usedIn HIV cure research
gptkbp:bfsParent gptkb:rs113488022
gptkb:CCR5
gptkb:CCR5_co-receptor
gptkbp:bfsLayer 7