rs386834158

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(I;I)	0	common genotype

Make rs386834158(-;-)

Make rs386834158(-;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88077790

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834158
dbSNP (classic)	rs386834158
ClinGen	rs386834158
ebi	rs386834158
HLI	rs386834158
Exac	rs386834158
Gnomad	rs386834158
Varsome	rs386834158
LitVar	rs386834158
Map	rs386834158
PheGenI	rs386834158
Biobank	rs386834158
1000 genomes	rs386834158
hgdp	rs386834158
ensembl	rs386834158
geneview	rs386834158
scholar	rs386834158
google	rs386834158
pharmgkb	rs386834158
gwascentral	rs386834158
openSNP	rs386834158
23andMe	rs386834158
SNPshot	rs386834158
SNPdbe	rs386834158
MSV3d	rs386834158
GWAS Ctlg	rs386834158

Max Magnitude

0

ClinVar
Risk	rs386834158(-;-)
Alt	rs386834158(-;-)
Reference	Rs386834158(A;A)
Significance	Other
Disease	Meckel syndrome type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Abnormality of the kidney Agenesis of cerebellar vermis Cerebellar cyst Cerebellar vermis hypoplasia Hyperechogenic kidneys Polycystic kidney dysplasia
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4 Leber congenital amaurosis 10 Joubert syndrome 5 Abnormality of the kidney Agenesis of cerebellar vermis Cerebellar cyst Cerebellar vermis hypoplasia Hyperechogenic kidneys Polycystic kidney dysplasia
Reversed	1
HGVS	NC_000012.11:g.88471567delT
CLNSRC	ClinVar
CLNACC	RCV000050152.2, RCV000363332.1, RCV000392172.1, RCV000415183.1,

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

[PMID 19466712] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?