12:88483274-88483274 A > -

Classification

Category 5 curation
CMH MAF 96 / 13817 samples (0.695%)
10 het., 86 hom. (10.4%)
182 / 27634 total alleles (0.659%)

gene: CEP290 synonym(s): 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6, CEP290, ENSG00000198707

OMIM
OMIM:610142: CEP290
OMIM:615991: ?Bardet-Biedl syndrome 14
OMIM:610188: Joubert syndrome 5
OMIM:611755: Leber congenital amaurosis 10
OMIM:611134: Meckel syndrome 4
OMIM:610189: Senior-Loken syndrome 6

ENST00000552810.1 [intron]
hgvs_c: ENST00000552810.1:c.3574-9del
splice impact: polypyrimidine_tract
protein sequence: ENSP00000448012.1

96170
clinvar_significance = Benign
clinvar_disease = Nephronophthisis
clinvar_disease = Joubert syndrome
clinvar_disease = Leber congenital amaurosis
clinvar_disease = Meckel-Gruber syndrome
clinvar_disease = Renal dysplasia and retinal aplasia
clinvar_disease = Bardet-Biedl syndrome
curated_classification = 5