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rs2229738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2229738(A;A)
Make rs2229738(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68794860
GeneCPT1A
is asnp
is mentioned by
dbSNPrs2229738
ebirs2229738
HLIrs2229738
Exacrs2229738
Varsomers2229738
Maprs2229738
PheGenIrs2229738
hapmaprs2229738
1000 genomesrs2229738
hgdprs2229738
ensemblrs2229738
gopubmedrs2229738
geneviewrs2229738
scholarrs2229738
googlers2229738
pharmgkbrs2229738
gwascentralrs2229738
openSNPrs2229738
23andMers2229738
23andMe allrs2229738
SNP Nexus

SNPshotrs2229738
SNPdbers2229738
MSV3drs2229738
GWAS Ctlgrs2229738
Merged fromRs17610395
GMAF0.03627
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs2229738(A,C;A,C)
Alt rs2229738(A,C;A,C)
Reference rs2229738(G;G)
Significance Pathogenic
Disease Carnitine palmitoyltransferase I deficiency not specified
Variation info
Gene CPT1A
CLNDBN Carnitine palmitoyltransferase I deficiency not specified
Reversed 1
HGVS NC_000011.9:g.68562328C>T
CLNSRC ClinVar GeneDx GeneReviews
CLNACC RCV000055868.1, RCV000180224.2,


[PMID 11441142] Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

GET Evidence
CPT1A-A275T
aa_change Ala275Thr
aa_change_short A275T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0554936
summary