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rs1799821

From SNPedia

Orientationplus
Stabilizedplus
Make rs1799821(A;A)
Make rs1799821(A;G)
Make rs1799821(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position53210776
GeneCPT2
is asnp
is mentioned by
dbSNPrs1799821
ebirs1799821
HLIrs1799821
Exacrs1799821
Varsomers1799821
Maprs1799821
PheGenIrs1799821
hapmaprs1799821
1000 genomesrs1799821
hgdprs1799821
ensemblrs1799821
gopubmedrs1799821
geneviewrs1799821
scholarrs1799821
googlers1799821
pharmgkbrs1799821
gwascentralrs1799821
openSNPrs1799821
23andMers1799821
23andMe allrs1799821
SNP Nexus

SNPshotrs1799821
SNPdbers1799821
MSV3drs1799821
GWAS Ctlgrs1799821
GMAF0.4995
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene CPT2
allele A
frequency 0.442
sift TOLERATED
HuRef 1103675093987
Disease Association Defects in CPT2 are the cause of lethal neonathal carnitine palmitoyltransferase II deficiency (CPT-II deficiency) (MIM:608836); a lethal neonathal form of CPT-II deficiency. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity.



Neighborrs28936674
Distance582
[PMID 15986317OA-icon.png] Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.


GET Evidence
CPT2-V368I
aa_change Val368Ile
aa_change_short V368I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.455661
summary



[PMID 22809552] A common haplotype of carnitine palmitoyltransferase 1b is associated with the metabolic syndrome.


ClinVar
Risk rs1799821(A;A)
Alt rs1799821(A;A)
Reference rs1799821(G;G)
Significance Other
Disease Encephalopathy not specified Carnitine palmitoyltransferase II deficiency
Variation info
Gene CPT2
CLNDBN Encephalopathy, acute, infection-induced, 4, susceptibility to not specified Carnitine palmitoyltransferase II deficiency
Reversed 0
HGVS NC_000001.10:g.53676448G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000023026.2, RCV000078116.5, RCV000202483.1,