CEP290


CENTROSOMAL PROTEIN, 290-KD

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
MKS

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
c.1219_1220delAT M407EfsX14 NM_025114.3 17564974, 19466712
c.4115_4116delTA I1372KfsX5 NM_025114.3 17564974


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
c.1219_1220delAT M407EfsX14 NM_025114.3 European 17564974, 19466712
c.180+2T>A potential missplicing NM_025114.3 French/Tunisian 17564974
c.1860_1861delAA E620EfsX7 NM_025114.3 Unknown 17564974
c.1984C>T Q662X NM_025114.3 European 19466712
c.289G>T E97X NM_025114.3 European 19466712
c.3175delA I1059X NM_025114.3 Tunisian 17564974
c.3446_3447delAA K1149fs NM_025114.3 European 19466712
c.381_382delinsT K127NfsX36 NM_025114.3 Unknown 17564974
c.384_387delTAGA D128EfsX34 NM_025114.3 French, Tunisian 17564974
c.3934A>T R1312X Unknown 19764032
c.5489_5493del Q1830fs NM_025114.3 Kosovar, Kosovo-Albanian 17705300
c.5489delA Q1830fs NM_025114.3 Kosovar, Kosovo-Albanian 17705300
c.5850delT F1950fs NM_025114.3 European 19466712
c.613C>T R205X NM_025114.3 Moroccan 17564974