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rs386834158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834158(-;-)
Make rs386834158(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position88077790
GeneCEP290
is asnp
is mentioned by
dbSNPrs386834158
ebirs386834158
HLIrs386834158
Exacrs386834158
Varsomers386834158
Maprs386834158
PheGenIrs386834158
hapmaprs386834158
1000 genomesrs386834158
hgdprs386834158
ensemblrs386834158
gopubmedrs386834158
geneviewrs386834158
scholarrs386834158
googlers386834158
pharmgkbrs386834158
gwascentralrs386834158
openSNPrs386834158
23andMers386834158
23andMe allrs386834158
SNP Nexus

SNPshotrs386834158
SNPdbers386834158
MSV3drs386834158
GWAS Ctlgrs386834158
Max Magnitude0
ClinVar
Risk rs386834158(;)
Alt rs386834158(;)
Reference rs386834158(A;A)
Significance Probable-Pathogenic
Disease Meckel syndrome type 4
Variation info
Gene CEP290
CLNDBN Meckel syndrome type 4
Reversed 1
HGVS NC_000012.11:g.88471567delT
CLNSRC ClinVar
CLNACC RCV000050152.1,


[PMID 17705300] Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.


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