CNGA3

cyclic nucleotide gated channel subunit alpha 3

Summary

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants576 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs529394802	2:98,962,629	C/T	—	likely benign
rs748374868	2:98,962,647	C/G	—	uncertain significance
rs143449407	2:98,962,652	A/G	—	conflicting classifications of pathogenicity
rs1691615064	2:98,962,654	A/G	—	uncertain significance
rs886056487	2:98,962,709	G/A	—	uncertain significance
rs775933048	2:98,962,748	C/T	—	uncertain significance
rs13408372	2:98,962,749	C/T	—	benign
rs192111633	2:98,962,764	G/A	—	uncertain significance
rs750494086	2:98,962,970	G/C	—	uncertain significance
rs886056488	2:98,962,992	G/A	—	uncertain significance
rs1553447991	2:98,986,401	G/C	—	conflicting classifications of pathogenicity
rs1324338876	2:98,986,439	A/T	—	uncertain significance
rs774668101	2:98,986,442	G/C	—	uncertain significance
rs1443129647	2:98,986,462	C/G	—	pathogenic
rs2466956082	2:98,986,465	C/A	—	likely benign
rs374845812	2:98,986,486	C/G	—	likely benign
rs1692250043	2:98,986,488	A/G	—	uncertain significance
rs747940315	2:98,986,495	G/T	—	uncertain significance
rs143489966	2:98,986,497	C/T	—	likely benign
rs1402442627	2:98,986,500	C/G	—	pathogenic
rs2104175460	2:98,986,504	C/T	—	uncertain significance
rs777509481	2:98,986,505	C/T	stop gained	pathogenic
rs746563618	2:98,986,506	G/A	—	uncertain significance
rs6727412	2:98,986,510	T/C	—	benign
rs1692251065	2:98,986,512	T/C	—	uncertain significance
rs776185461	2:98,986,515	A/G	—	uncertain significance
rs149069990	2:98,986,517	C/G	—	uncertain significance
rs769433253	2:98,986,518	G/A	—	conflicting classifications of pathogenicity
rs148593890	2:98,986,519	C/T	—	benign
rs762107596	2:98,986,520	G/C	—	uncertain significance
rs2466956452	2:98,986,525	A/C	—	uncertain significance
rs1213180679	2:98,986,528	T/A	—	uncertain significance
rs773541745	2:98,986,531	C/A	—	likely benign
rs2104175711	2:98,986,537	C/A	—	uncertain significance
rs147118493	2:98,986,540	G/A	splice region variant	pathogenic
rs367821754	2:98,986,556	T/C	—	likely benign
rs10865016	2:98,989,304	G/C	—	—
rs111328717	2:98,994,130	C/T	—	benign
rs773593173	2:98,994,132	G/A	—	likely benign
rs2279859	2:98,994,134	G/A	—	likely benign
rs1366113401	2:98,994,146	C/T	—	likely benign
rs1175437818	2:98,994,147	T/C	—	uncertain significance
rs909815558	2:98,994,150	A/G	—	uncertain significance
rs759618030	2:98,994,153	C/G	—	likely benign
rs141086649	2:98,994,158	C/T	—	conflicting classifications of pathogenicity
rs138888861	2:98,994,159	G/A	—	benign
rs2466976730	2:98,994,170	A/G	—	uncertain significance
rs535187464	2:98,994,172	A/G	—	uncertain significance
rs367575427	2:98,994,176	C/T	—	uncertain significance
rs372489647	2:98,994,177	G/A	—	conflicting classifications of pathogenicity
rs368755294	2:98,994,185	T/C	—	uncertain significance
rs146318973	2:98,994,189	G/T	—	uncertain significance
rs62156348	2:98,994,191	C/T	—	likely benign
rs199670952	2:98,994,192	G/A	—	conflicting classifications of pathogenicity
rs142681231	2:98,994,193	G/T	—	uncertain significance
rs771343327	2:98,994,194	G/A	—	likely benign
rs777234482	2:98,994,196	A/G	—	uncertain significance
rs759715897	2:98,994,198	C/G	—	uncertain significance
rs770052346	2:98,994,199	G/A	—	uncertain significance
rs368962370	2:98,994,202	A/G	—	uncertain significance
rs2104198026	2:98,994,205	G/C	—	uncertain significance
rs1362563674	2:98,994,207	G/A	—	likely benign
rs1574375743	2:98,994,221	C/T	—	uncertain significance
rs372760840	2:98,994,228	C/T	—	likely benign
rs202197432	2:98,994,229	G/C	—	uncertain significance
rs767377424	2:98,994,231	G/A	—	likely benign
rs750409034	2:98,994,235	G/A	—	uncertain significance
rs1574375785	2:98,994,237	C/A	—	likely benign
rs139544302	2:98,994,246	C/T	—	conflicting classifications of pathogenicity
rs147789073	2:98,994,247	G/A	—	uncertain significance
rs980089967	2:98,994,253	G/A	—	uncertain significance
rs200590680	2:98,994,257	T/C	—	uncertain significance
rs145057274	2:98,994,258	C/T	—	likely benign
rs61756692	2:98,994,259	G/A	—	conflicting classifications of pathogenicity
rs746419947	2:98,994,260	C/T	—	uncertain significance
rs2466977700	2:98,994,263	G/A	—	likely pathogenic
rs775771846	2:98,994,266	A/G	—	uncertain significance
rs972976103	2:98,994,269	T/C	—	uncertain significance
rs1692443225	2:98,994,270	G/C	—	likely benign
rs1401326236	2:98,994,273	C/T	—	likely benign
rs199755395	2:98,994,274	A/G	—	likely benign
rs58990587	2:98,994,309	G/T	—	likely benign
rs937725	2:98,994,414	T/C	—	benign
rs748117728	2:98,996,621	C/T	—	likely benign
rs553751036	2:98,996,626	G/C	—	likely benign
rs373583147	2:98,996,634	C/T	—	likely benign
rs776262284	2:98,996,637	G/A	—	likely pathogenic
rs566717145	2:98,996,643	C/G	—	uncertain significance
rs775081515	2:98,996,644	G/A	—	likely benign
rs77733216	2:98,996,645	C/T	—	uncertain significance
rs371232570	2:98,996,646	G/A	—	likely benign
rs200404774	2:98,996,647	C/T	—	conflicting classifications of pathogenicity
rs575326068	2:98,996,660	C/T	—	conflicting classifications of pathogenicity
rs374507358	2:98,996,663	C/T	—	uncertain significance
rs149230055	2:98,996,664	G/A	—	uncertain significance
rs377322770	2:98,996,667	G/A	—	uncertain significance
rs1460177858	2:98,996,668	G/A	—	likely benign
rs757470958	2:98,996,670	G/A	stop gained	pathogenic
rs2466986037	2:98,996,675	G/A	—	uncertain significance
rs774890755	2:98,996,683	T/G	—	uncertain significance

Showing 100 of 576 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.