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rs386834152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834152(C;T)
Make rs386834152(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88114488
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834152
ebirs386834152
HLIrs386834152
Exacrs386834152
Varsomers386834152
Maprs386834152
PheGenIrs386834152
hapmaprs386834152
1000 genomesrs386834152
hgdprs386834152
ensemblrs386834152
gopubmedrs386834152
geneviewrs386834152
scholarrs386834152
googlers386834152
pharmgkbrs386834152
gwascentralrs386834152
openSNPrs386834152
23andMers386834152
23andMe allrs386834152
SNP Nexus

SNPshotrs386834152
SNPdbers386834152
MSV3drs386834152
GWAS Ctlgrs386834152
Max Magnitude0
ClinVar
Risk rs386834152(T;T)
Alt rs386834152(T;T)
Reference rs386834152(C;C)
Significance Pathogenic
Disease Meckel syndrome type 4 Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4 Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88508265G>A
CLNSRC ClinVar
CLNACC RCV000050146.1, RCV000201755.1,


[PMID 17564974OA-icon.png] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.


[PMID 19466712OA-icon.png] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?


[PMID 19764032OA-icon.png] Expanding CEP290 mutational spectrum in ciliopathies.