Annotation Detail

Information
Associated Genes
FCGR2B
Associated Variants
FCGR2B p.Ile232Thr (p.I232T) ( ENST00000236937.13, ENST00000367961.8, ENST00000358671.10 )
FCGR2B p.Ile232Thr (p.I232T) ( ENST00000236937.13, ENST00000358671.10, ENST00000367961.8 )
Associated Disease
Malaria, resistance to
Source Database
ClinVar
Description
NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr) AND Malaria, resistance to
ClinVar Allele ID
20506
ClinVar RefSeq Alternation Syntax
NM_001002274.3:c.695T>C
ClinVar RefSeq Alternation Syntax
NR_169827.1:n.924T>C
ClinVar RefSeq Alternation Syntax
NM_001386004.1:c.671T>C
ClinVar RefSeq Alternation Syntax
NM_001386002.1:c.671T>C
ClinVar RefSeq Alternation Syntax
NM_004001.5:c.695T>C
ClinVar RefSeq Alternation Syntax
NM_001386006.1:c.674T>C
ClinVar RefSeq Alternation Syntax
NM_001002275.3:c.692T>C
ClinVar RefSeq Alternation Syntax
NM_001190828.2:c.674T>C
ClinVar RefSeq Alternation Syntax
NM_001002273.3:c.692T>C
ClinVar RefSeq Alternation Syntax
NM_001386000.1:c.671T>C
ClinVar RefSeq Alternation Syntax
NM_001386003.1:c.695T>C
ClinVar RefSeq Alternation Syntax
NM_001386001.1:c.674T>C
ClinVar RefSeq Alternation Syntax
NM_001386005.1:c.695T>C
ClinVar RefSeq Alternation Syntax
NM_001394477.1:c.695T>C
Clinical Significance Description
protective
Clinical Significance Last Update
2015-05-18
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000005801
ClinVar Disease
Malaria, resistance to
Observed Origin Sample
germline
Pubmed
20385827
Pubmed
12115230
Pubmed
17435165
Pubmed
16170323
Pubmed
16115811
Pubmed
15459183
Drugs