Annotation Detail

Information
Associated Genes
ACKR1
Associated Variants
ACKR1 c.-111T>C ( ENST00000368121.6, ENST00000368122.4, ENST00000714112.1 )
ACKR1 c.-111T>C ( ENST00000368121.6, ENST00000368122.4, ENST00000714112.1 )
Associated Disease
Resistance to Plasmodium vivax infection
Source Database
ClinVar
Description
NM_002036.3(ACKR1):c.-67T>C AND Resistance to Plasmodium vivax infection
ClinVar Allele ID
33434
ClinVar RefSeq Alternation Syntax
NM_002036.4:c.-67T>C
ClinVar RefSeq Alternation Syntax
NM_001122951.3:c.-111T>C
Clinical Significance Description
protective
Clinical Significance Last Update
2017-12-11
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000000007
ClinVar Disease
Resistance to Plasmodium vivax infection
Observed Origin Sample
germline
Pubmed
8547665
Pubmed
18621010
Pubmed
20932074
Pubmed
8651934
Pubmed
19180233
Pubmed
17304246
Pubmed
10791881
Pubmed
7663520
Pubmed
10570183
Pubmed
19620399
Pubmed
18179887
Drugs