rs386834152

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs386834152(C;T)

Make rs386834152(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88114488

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834152
dbSNP (classic)	rs386834152
ClinGen	rs386834152
ebi	rs386834152
HLI	rs386834152
Exac	rs386834152
Gnomad	rs386834152
Varsome	rs386834152
LitVar	rs386834152
Map	rs386834152
PheGenI	rs386834152
Biobank	rs386834152
1000 genomes	rs386834152
hgdp	rs386834152
ensembl	rs386834152
geneview	rs386834152
scholar	rs386834152
google	rs386834152
pharmgkb	rs386834152
gwascentral	rs386834152
openSNP	rs386834152
23andMe	rs386834152
SNPshot	rs386834152
SNPdbe	rs386834152
MSV3d	rs386834152
GWAS Ctlg	rs386834152

Max Magnitude

0

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 17564974] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

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

[PMID 19764032] Expanding CEP290 mutational spectrum in ciliopathies.