AFG3L2

AFG3 like matrix AAA peptidase subunit 2

Summary

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

Known Variants407 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886053611	18:12,328,979	T/G	—	uncertain significance
rs565352114	18:12,329,080	T/C	—	uncertain significance
rs150224434	18:12,329,185	A/T	—	uncertain significance
rs886053612	18:12,329,191	C/T	—	uncertain significance
rs180917336	18:12,329,238	C/T	—	uncertain significance
rs79884272	18:12,329,253	G/A	—	benign
rs886053613	18:12,329,343	T/C	—	uncertain significance
rs114203162	18:12,329,455	T/G	—	likely benign
rs1129115	18:12,329,536	C/G	—	benign
rs373716760	18:12,329,548	G/A	—	likely benign
rs113981080	18:12,329,562	C/T	—	benign
rs772687780	18:12,329,564	C/G	—	uncertain significance
rs773545779	18:12,329,566	A/G	—	uncertain significance
rs1296929028	18:12,329,576	T/C	—	likely benign
rs2510216250	18:12,329,583	C/G	—	uncertain significance
rs372136184	18:12,329,586	G/A	—	uncertain significance
rs2510216271	18:12,329,594	C/T	—	likely benign
rs761546721	18:12,329,599	T/C	—	uncertain significance
rs767374819	18:12,329,600	C/T	—	benign
rs765789778	18:12,329,608	C/T	—	uncertain significance
rs753450684	18:12,329,610	C/T	—	uncertain significance
rs200514577	18:12,329,611	G/A	—	uncertain significance
rs886053614	18:12,329,612	C/A	—	uncertain significance
rs1568130466	18:12,329,631	A/G	—	uncertain significance
rs1335529087	18:12,329,642	A/C	—	likely benign
rs117182113	18:12,329,644	G/A	—	conflicting classifications of pathogenicity
rs969327635	18:12,329,646	G/A	—	conflicting classifications of pathogenicity
rs769883388	18:12,329,663	G/A	—	uncertain significance
rs543969956	18:12,329,706	G/A	—	uncertain significance
rs1270837132	18:12,329,719	G/C	—	uncertain significance
rs2143074393	18:12,329,740	C/A	—	uncertain significance
rs562544252	18:12,329,763	T/C	—	conflicting classifications of pathogenicity
rs752028185	18:12,329,773	G/C	—	uncertain significance
rs914045907	18:12,329,789	T/G	—	likely benign
rs74593099	18:12,329,924	G/A	—	benign
rs112397313	18:12,330,055	C/T	—	benign
rs80302688	18:12,337,210	A/T	—	benign
rs1256743914	18:12,337,321	T/C	—	likely benign
rs117096851	18:12,337,322	T/C	—	benign
rs758755215	18:12,337,326	C/T	—	likely benign
rs1241573189	18:12,337,343	C/A	—	uncertain significance
rs139469785	18:12,337,348	C/T	missense variant	pathogenic
rs780093104	18:12,337,349	G/A	—	likely benign
rs2510220446	18:12,337,359	T/C	—	uncertain significance
rs1907781452	18:12,337,365	G/A	—	uncertain significance
rs1907781566	18:12,337,372	G/A	—	uncertain significance
rs768153900	18:12,337,375	C/T	—	uncertain significance
rs1399438718	18:12,337,383	C/A	—	uncertain significance
rs771747701	18:12,337,386	T/A	—	conflicting classifications of pathogenicity
rs1598820805	18:12,337,401	A/G	—	conflicting classifications of pathogenicity
rs151344523	18:12,337,410	C/T	missense variant	pathogenic
rs754307169	18:12,337,411	G/A	—	pathogenic
rs1598820822	18:12,337,414	C/T	—	uncertain significance
rs151344522	18:12,337,417	C/T	missense variant	pathogenic
rs1598820833	18:12,337,423	C/A	—	uncertain significance
rs151344521	18:12,337,434	G/T	missense variant	pathogenic
rs151344520	18:12,337,444	C/T	missense variant	pathogenic
rs1568133901	18:12,337,446	C/T	—	uncertain significance
rs1598820860	18:12,337,450	A/G	—	pathogenic
rs2143111468	18:12,337,452	G/A	—	uncertain significance
rs797045221	18:12,337,453	G/A	—	likely pathogenic
rs2510220515	18:12,337,454	T/C	—	likely benign
rs2510220517	18:12,337,455	T/G	—	uncertain significance
rs751855138	18:12,337,468	T/C	—	uncertain significance
rs551015841	18:12,337,480	G/A	—	conflicting classifications of pathogenicity
rs778455371	18:12,337,485	A/G	—	uncertain significance
rs1907788208	18:12,337,490	A/T	—	likely pathogenic
rs2143111750	18:12,337,491	A/G	—	uncertain significance
rs151344518	18:12,337,503	C/T	missense variant	pathogenic
rs151344517	18:12,337,504	C/T	missense variant	pathogenic
rs151344515	18:12,337,518	A/C	missense variant	pathogenic
rs151344514	18:12,337,519	T/C	missense variant	pathogenic
rs2510220593	18:12,337,522	C/G	—	pathogenic
rs1555670564	18:12,337,531	C/A	—	uncertain significance
rs1487683840	18:12,337,537	G/T	—	uncertain significance
rs760087950	18:12,337,545	C/T	—	likely benign
rs765707984	18:12,337,548	A/G	—	likely benign
rs78550590	18:12,337,688	G/C	—	benign
rs56079355	18:12,337,762	T/C	—	benign
rs113975619	18:12,339,967	C/T	—	benign
rs377272405	18:12,340,182	A/T	—	likely benign
rs1555670847	18:12,340,191	T/G	—	likely benign
rs1064796804	18:12,340,204	G/A	missense variant	pathogenic
rs1424912905	18:12,340,209	T/C	—	likely benign
rs151344513	18:12,340,219	G/A	missense variant	pathogenic
rs371146948	18:12,340,221	T/C	—	likely benign
rs764254189	18:12,340,229	T/G	synonymous variant	benign
rs1907903994	18:12,340,232	A/C	—	uncertain significance
rs767681852	18:12,340,242	A/G	—	likely benign
rs201231686	18:12,340,247	C/T	—	uncertain significance
rs1226952405	18:12,340,249	G/C	—	uncertain significance
rs1320367366	18:12,340,285	C/T	—	conflicting classifications of pathogenicity
rs1907906987	18:12,340,301	T/A	—	uncertain significance
rs727502823	18:12,340,305	C/T	missense variant	pathogenic
rs777264204	18:12,340,314	C/T	—	conflicting classifications of pathogenicity
rs756912142	18:12,340,319	G/C	—	conflicting classifications of pathogenicity
rs1907907851	18:12,340,322	G/T	—	pathogenic
rs387906889	18:12,340,333	T/C	missense variant	pathogenic
rs1598822921	18:12,340,334	A/G	—	uncertain significance
rs2510221895	18:12,340,342	T/G	—	uncertain significance

Showing 100 of 407 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.