FAM161A

FAM161 centrosomal protein A

Summary

This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]

Known Variants644 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs72621541	2:62,038,111	C/A	—	—
rs181814580	2:62,052,039	T/G	—	uncertain significance
rs7563900	2:62,052,041	C/A	—	uncertain significance
rs886056213	2:62,052,083	C/G	—	uncertain significance
rs558710194	2:62,052,158	A/G	—	uncertain significance
rs148352743	2:62,052,222	T/G	—	uncertain significance
rs886056214	2:62,052,241	T/C	—	uncertain significance
rs765343041	2:62,052,245	C/T	—	uncertain significance
rs529941143	2:62,052,291	A/G	—	uncertain significance
rs1015093278	2:62,052,338	T/C	—	uncertain significance
rs886056215	2:62,052,367	T/C	—	uncertain significance
rs3736598	2:62,052,380	G/A	—	benign
rs532671656	2:62,052,446	A/C	—	uncertain significance
rs191936453	2:62,052,454	C/A	—	uncertain significance
rs76144251	2:62,052,461	T/G	—	uncertain significance
rs78512710	2:62,052,490	A/G	—	conflicting classifications of pathogenicity
rs541819550	2:62,052,788	T/C	—	uncertain significance
rs866844878	2:62,052,795	C/T	—	uncertain significance
rs560037933	2:62,052,833	C/T	—	uncertain significance
rs933044250	2:62,052,835	C/T	—	uncertain significance
rs886056217	2:62,052,838	T/C	—	uncertain significance
rs188862164	2:62,052,973	C/T	—	uncertain significance
rs1672343350	2:62,053,065	C/A	—	uncertain significance
rs897022105	2:62,053,067	C/T	—	uncertain significance
rs535265888	2:62,053,071	G/T	—	uncertain significance
rs62148138	2:62,053,279	T/G	—	benign
rs6748320	2:62,053,290	A/G	—	benign
rs545909945	2:62,053,394	T/G	—	uncertain significance
rs750644248	2:62,053,507	C/A	—	uncertain significance
rs765002648	2:62,053,522	C/T	—	uncertain significance
rs745524377	2:62,053,546	C/G	—	uncertain significance
rs61743113	2:62,053,564	G/A	—	likely benign
rs2105058637	2:62,053,593	G/A	—	likely benign
rs1186369022	2:62,053,600	T/G	—	uncertain significance
rs2465982378	2:62,053,608	A/T	—	likely benign
rs77562614	2:62,053,619	C/T	—	conflicting classifications of pathogenicity
rs376530799	2:62,053,633	T/C	—	uncertain significance
rs1373123200	2:62,053,635	G/A	—	likely benign
rs764049454	2:62,053,637	C/T	—	uncertain significance
rs1672372347	2:62,053,644	T/C	—	likely benign
rs2105058733	2:62,053,656	A/G	—	likely benign
rs1672373216	2:62,053,661	C/G	—	uncertain significance
rs1572856753	2:62,053,668	G/A	—	likely benign
rs191862300	2:62,053,676	C/A	—	uncertain significance
rs138464813	2:62,053,677	A/G	—	conflicting classifications of pathogenicity
rs375067034	2:62,053,684	T/C	—	uncertain significance
rs779902438	2:62,053,686	A/T	—	uncertain significance
rs755427067	2:62,053,691	C/G	—	uncertain significance
rs2465982637	2:62,053,695	C/T	—	likely benign
rs2465982643	2:62,053,696	C/G	—	uncertain significance
rs2105058823	2:62,053,701	C/T	—	likely benign
rs1173442153	2:62,053,707	T/C	—	likely benign
rs998192755	2:62,053,709	C/A	—	uncertain significance
rs1672375319	2:62,053,711	T/C	—	uncertain significance
rs998875938	2:62,053,721	C/A	—	uncertain significance
rs368402244	2:62,053,725	T/G	—	uncertain significance
rs2465982771	2:62,053,728	A/G	—	likely benign
rs370603613	2:62,053,730	T/C	—	uncertain significance
rs1672377766	2:62,053,738	G/C	—	likely benign
rs1261834022	2:62,053,739	G/A	—	likely benign
rs2465982830	2:62,053,742	A/T	—	likely benign
rs954282082	2:62,053,743	A/G	—	likely benign
rs1471629161	2:62,053,744	G/T	—	likely benign
rs752502114	2:62,053,750	T/C	—	likely benign
rs2465984239	2:62,054,224	T/A	—	likely benign
rs2105059684	2:62,054,228	A/T	—	likely benign
rs754733340	2:62,054,229	T/A	—	likely benign
rs1447834751	2:62,054,230	A/T	—	likely benign
rs753144249	2:62,054,238	C/T	—	likely pathogenic
rs758809359	2:62,054,239	C/T	—	uncertain significance
rs535200072	2:62,054,242	T/A	—	likely benign
rs1672395521	2:62,054,243	C/T	—	uncertain significance
rs1672395727	2:62,054,249	C/T	—	uncertain significance
rs377210817	2:62,054,253	A/G	—	likely benign
rs979342851	2:62,054,254	G/A	—	uncertain significance
rs201362403	2:62,054,256	G/A	—	conflicting classifications of pathogenicity
rs781330959	2:62,054,265	C/G	—	likely benign
rs372371486	2:62,054,266	G/A	—	uncertain significance
rs867264184	2:62,054,274	A/C	—	uncertain significance
rs1672397052	2:62,054,277	G/A	—	likely benign
rs770123645	2:62,054,278	T/A	—	uncertain significance
rs773989386	2:62,054,279	T/C	—	uncertain significance
rs201052209	2:62,054,286	C/A	—	benign
rs376359887	2:62,054,296	T/C	—	uncertain significance
rs771856263	2:62,054,297	T/C	—	uncertain significance
rs934039637	2:62,054,298	T/C	—	likely benign
rs2465984596	2:62,054,300	C/T	—	uncertain significance
rs2105059865	2:62,054,301	A/G	—	likely benign
rs369633003	2:62,054,316	T/C	—	conflicting classifications of pathogenicity
rs2465984706	2:62,054,317	G/C	—	pathogenic
rs2465984723	2:62,054,319	A/C	—	likely benign
rs1449379145	2:62,054,323	A/G	—	uncertain significance
rs1463029842	2:62,054,331	A/T	—	likely benign
rs1672400688	2:62,054,337	T/C	—	likely benign
rs188276373	2:62,054,338	C/T	—	uncertain significance
rs753463279	2:62,054,339	C/T	—	uncertain significance
rs2465984849	2:62,054,340	T/C	—	likely benign
rs2465984858	2:62,054,342	G/A	—	likely benign
rs1672401056	2:62,054,343	T/C	—	likely benign
rs2465984898	2:62,054,349	T/C	—	likely benign

Showing 100 of 644 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.