CEP290

is a	gene
is	mentioned by
Full name	centrosomal protein 290kDa
EntrezGene	80184
PheGenI	80184
VariationViewer	80184
ClinVar	CEP290
GeneCards	CEP290
dbSNP	80184
Diseases	CEP290
SADR	80184
HugeNav	80184
wikipedia	CEP290
google	CEP290
gopubmed	CEP290
EVS	CEP290
HEFalMp	CEP290
MyGene2	CEP290
23andMe	CEP290
UniProt	O15078
Ensembl	ENSG00000198707
OMIM	610142
# SNPs	89

	Max Magnitude	Chromosome position
rs1057517886	0	88,139,174
rs1057518822	0	88,102,888
rs1057519165	0	88,060,836
rs1057519245	0	88,089,032
rs1060499781	0	88,058,846
rs1064793733	0	88,102,860
rs1064797171	0	88,089,276
rs11836796	0	88,092,734
rs137852832	0	88,077,263
rs137852833	0	88,111,320
rs137852834	0	88,083,936
rs137852835	0	88,130,324
rs201218801	0	88,059,897
rs267606719	0	88,077,227
rs281865192	6	88,101,183
rs370119681	0	88,080,226
rs371496675	0	88,117,076
rs371525247	0	88,071,373
rs375548374	0	88,053,733
rs376493409	0	88,083,161
rs386834148	0	88,121,136
rs386834149	0	88,120,185
rs386834150	0	88,140,954
rs386834151	0	88,115,146
rs386834152	0	88,114,488
rs386834153	0	88,139,153
rs386834154	0	88,093,904
rs386834155	0	88,092,695
rs386834156	0	88,136,702
rs386834157	0	88,136,697
rs386834158	0	88,077,790
rs386834159	0	88,071,786
rs539400286	0	88,086,083
rs575767207	0	88,079,112
rs587779733	0	88,084,669
rs587783009	0	88,118,482
rs587783010	0	88,111,320
rs587783016	0	88,089,157
rs587783017	0	88,055,666
rs62635288	0	88,141,287
rs62638179	0	88,083,077
rs62638180	0	88,071,819
rs62640570	0	88,093,903
rs727503853	0	88,077,317
rs727503855	0	88,118,528
rs747835249	0	88,114,418
rs747983279	0	88,118,528
rs748034744	0	88,111,226
rs749439750	0	88,084,768
rs752197734	0	88,068,657
... further results

LCA (Leber Congenital Amaurosis) is the most common form of congenital blindness. LCA causes blindness from birth or during the first few months of life. The disorder affects 1 in 30,000 newborns, and is currently incurable.

Discovery of the CEP290 gene and a single mutation (rs281865192) found in 20 percent of LCA patients may significantly speed up the genetic testing process for blind children.[PMID 16909394 ]