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CEP290

From SNPedia

is agene
is mentioned by
Full namecentrosomal protein 290kDa
EntrezGene80184
PheGenI80184
VariationViewer80184
ClinVarCEP290
dbSNP80184
SADR80184
HugeNav80184
wikipediaCEP290
googleCEP290
gopubmedCEP290
EVSCEP290
HEFalMpCEP290
MyGene2CEP290
23andMeCEP290
UniProtO15078
EnsemblENSG00000198707
OMIM610142
# SNPs56
 Max MagnitudeChromosome positionSummary
rs11836796088,092,734
rs137852832088,077,263
rs137852833088,111,320
rs137852834088,083,936
rs137852835088,130,324
rs267606719088,077,227
rs281865192688,101,183
rs370119681088,080,226
rs371525247088,071,373
rs376493409088,083,161
rs386834148088,121,136
rs386834149088,120,185
rs386834150088,140,954
rs386834151088,115,146
rs386834152088,114,488
rs386834153088,139,153
rs386834154088,093,904
rs386834155088,092,695
rs386834156088,136,702
rs386834157088,136,697
rs386834158088,077,790
rs386834159088,071,786
rs539400286088,086,083
rs575767207088,079,112
rs587779733088,084,669
rs587783009088,118,482
rs587783010088,111,320
rs587783016088,089,157
rs587783017088,055,666
rs62635288088,141,287
rs62640570088,093,903
rs727503853088,077,317
rs727503855088,118,528
rs74798327988,118,528
rs748034744088,111,226
rs749439750088,084,768
rs75630273188,083,076
rs75832961188,059,939
rs75855067588,140,969
rs765483163088,089,283
rs76660875588,115,144
rs76976110088,118,527
rs77145416788,062,772
rs779262951088,068,585
rs78062485388,084,835
rs786205620088,093,889
rs797044604088,086,450
rs86322452388,086,416
rs86322518288,086,092
rs86322518388,111,799
... 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 16909394OA-icon.png]