FASTKD2

FAST kinase domains 2

Summary

This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]

Known Variants367 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs16838839	2:207,630,093	C/A	—	benign
rs539716623	2:207,630,251	T/C	—	uncertain significance
rs41272657	2:207,630,271	T/C	—	uncertain significance
rs886055503	2:207,630,302	G/C	—	uncertain significance
rs886055504	2:207,630,306	T/G	—	uncertain significance
rs970608568	2:207,630,332	A/G	—	uncertain significance
rs3762567	2:207,630,338	C/T	—	benign
rs866957815	2:207,630,341	G/A	—	uncertain significance
rs546021759	2:207,630,359	T/G	—	likely benign
rs16838842	2:207,630,360	C/T	—	likely benign
rs576495313	2:207,630,363	G/T	—	likely benign
rs1039243027	2:207,630,372	C/T	—	likely benign
rs543042440	2:207,630,392	G/A	—	conflicting classifications of pathogenicity
rs541828091	2:207,630,398	G/C	—	likely benign
rs116297724	2:207,630,471	A/G	—	likely benign
rs140026989	2:207,631,291	C/A	—	likely benign
rs765204520	2:207,631,381	C/T	—	uncertain significance
rs145438423	2:207,631,388	T/C	—	conflicting classifications of pathogenicity
rs886055505	2:207,631,403	A/G	—	uncertain significance
rs2469460659	2:207,631,425	C/A	—	uncertain significance
rs1478893824	2:207,631,438	A/C	—	likely benign
rs147727753	2:207,631,446	G/C	—	conflicting classifications of pathogenicity
rs752284309	2:207,631,460	A/G	—	uncertain significance
rs3762568	2:207,631,461	G/A	—	benign
rs2469460823	2:207,631,471	T/C	—	likely benign
rs549677418	2:207,631,479	C/T	—	uncertain significance
rs201816518	2:207,631,480	G/A	—	likely benign
rs1244715415	2:207,631,482	G/T	—	uncertain significance
rs866874741	2:207,631,483	C/T	—	likely benign
rs2469460889	2:207,631,485	C/A	—	uncertain significance
rs536180346	2:207,631,493	T/C	—	conflicting classifications of pathogenicity
rs1473721601	2:207,631,523	T/G	—	uncertain significance
rs2469461335	2:207,631,556	G/C	—	uncertain significance
rs141447598	2:207,631,566	A/G	—	conflicting classifications of pathogenicity
rs368791899	2:207,631,587	A/G	—	uncertain significance
rs863223960	2:207,631,599	T/C	—	likely benign
rs150457139	2:207,631,609	T/C	—	likely benign
rs750218375	2:207,631,610	C/T	—	uncertain significance
rs755873619	2:207,631,614	A/G	—	uncertain significance
rs144137525	2:207,631,624	A/G	—	likely benign
rs778865889	2:207,631,627	A/T	—	likely benign
rs2105969861	2:207,631,628	A/C	—	uncertain significance
rs757378301	2:207,631,632	A/G	—	uncertain significance
rs374830420	2:207,631,642	A/G	—	uncertain significance
rs886044127	2:207,631,651	T/G	—	uncertain significance
rs1311032943	2:207,631,676	G/A	—	uncertain significance
rs863223961	2:207,631,678	T/A	—	likely benign
rs1317181507	2:207,631,683	G/A	—	uncertain significance
rs773754189	2:207,631,715	G/T	—	uncertain significance
rs2469462314	2:207,631,721	A/G	—	uncertain significance
rs760522658	2:207,631,736	C/G	—	uncertain significance
rs149250098	2:207,631,773	C/T	—	uncertain significance
rs1689529600	2:207,631,869	C/T	—	uncertain significance
rs752946004	2:207,631,875	G/A	—	uncertain significance
rs763005940	2:207,631,878	T/C	—	uncertain significance
rs2469463266	2:207,631,901	G/A	—	uncertain significance
rs764238281	2:207,631,902	A/G	—	uncertain significance
rs747834002	2:207,631,940	A/G	—	uncertain significance
rs2469463429	2:207,631,943	G/T	—	uncertain significance
rs367909050	2:207,631,944	C/T	—	uncertain significance
rs532997479	2:207,631,945	G/T	—	likely benign
rs569854101	2:207,631,975	A/G	—	conflicting classifications of pathogenicity
rs750930063	2:207,632,018	C/T	—	uncertain significance
rs150994958	2:207,632,019	G/A	—	conflicting classifications of pathogenicity
rs758094541	2:207,632,030	C/T	—	pathogenic
rs71429736	2:207,632,031	G/A	—	likely benign
rs146763857	2:207,632,042	A/C	—	uncertain significance
rs565809308	2:207,632,053	A/C	—	likely benign
rs2469464090	2:207,632,061	A/C	—	uncertain significance
rs376010134	2:207,632,076	T/C	—	uncertain significance
rs2469464168	2:207,632,090	A/G	—	uncertain significance
rs863223962	2:207,632,099	C/T	stop gained	pathogenic
rs202102918	2:207,632,100	A/C	—	uncertain significance
rs182441753	2:207,632,101	G/C	—	conflicting classifications of pathogenicity
rs887430290	2:207,632,113	A/C	—	likely benign
rs754263941	2:207,632,123	C/T	—	uncertain significance
rs150195745	2:207,632,128	C/T	—	likely benign
rs368819721	2:207,632,129	G/A	—	uncertain significance
rs756832054	2:207,632,131	C/A	—	likely benign
rs1222044027	2:207,632,144	G/A	—	uncertain significance
rs2469464456	2:207,632,162	A/C	—	likely benign
rs748570624	2:207,632,165	T/C	—	likely benign
rs145680754	2:207,632,170	G/A	—	likely benign
rs377619612	2:207,632,173	G/A	—	likely benign
rs1689552727	2:207,632,181	T/C	—	pathogenic
rs752997524	2:207,632,208	G/A	—	likely benign
rs200187845	2:207,632,212	T/C	—	likely benign
rs2277912	2:207,634,236	T/G	upstream gene variant	—
rs147467635	2:207,634,496	A/G	upstream gene variant	—
rs367924143	2:207,634,818	C/G	—	uncertain significance
rs918461594	2:207,634,819	G/A	—	uncertain significance
rs200827808	2:207,634,860	A/G	—	uncertain significance
rs886055506	2:207,634,869	G/A	—	uncertain significance
rs986734275	2:207,634,875	A/G	—	uncertain significance
rs778956746	2:207,634,877	G/A	—	uncertain significance
rs1559359546	2:207,634,886	C/A	—	pathogenic
rs752584843	2:207,634,892	T/C	—	likely benign
rs754128949	2:207,634,897	A/C	—	uncertain significance
rs778120270	2:207,634,905	C/T	—	pathogenic
rs138500508	2:207,634,909	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 367 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.