MCCC1

methylcrotonyl-CoA carboxylase subunit 1

Summary

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]

Known Variants673 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs894828851	3:182,733,136	C/T	—	uncertain significance
rs186406584	3:182,733,181	T/A	—	uncertain significance
rs199827064	3:182,733,220	T/G	—	uncertain significance
rs115605600	3:182,733,225	T/A	—	conflicting classifications of pathogenicity
rs781286566	3:182,733,232	C/T	—	likely benign
rs201806708	3:182,733,233	G/A	—	conflicting classifications of pathogenicity
rs2530003089	3:182,733,241	T/C	—	likely benign
rs2530003114	3:182,733,244	G/A	—	likely benign
rs35706839	3:182,733,255	C/T	—	benign
rs984881958	3:182,733,268	G/A	—	likely benign
rs1711544489	3:182,733,310	G/A	—	likely benign
rs1349602794	3:182,733,313	C/T	—	likely benign
rs1237432535	3:182,733,314	A/G	—	uncertain significance
rs776138490	3:182,733,315	C/T	—	uncertain significance
rs772010858	3:182,733,319	—	—	pathogenic
rs762296041	3:182,733,319	C/T	—	likely benign
rs765720892	3:182,733,322	T/C	—	likely benign
rs119103217	3:182,733,325	—	—	pathogenic
rs1203426656	3:182,733,325	T/A	—	likely benign
rs751755306	3:182,733,348	T/C	—	uncertain significance
rs1553848994	3:182,733,353	T/C	—	uncertain significance
rs2108428908	3:182,733,356	T/G	—	likely pathogenic
rs200911643	3:182,733,369	G/A	—	likely benign
rs371009096	3:182,733,371	C/G	—	likely benign
rs2530004092	3:182,733,373	G/A	—	likely benign
rs12486983	3:182,733,547	C/T	—	benign
rs537365135	3:182,734,817	A/G	—	likely benign
rs73068824	3:182,735,023	C/T	—	likely benign
rs1456250624	3:182,735,039	T/G	—	likely benign
rs1233685852	3:182,735,044	A/G	—	likely benign
rs1711715793	3:182,735,045	T/C	—	likely benign
rs200415465	3:182,735,057	C/G	—	uncertain significance
rs773740752	3:182,735,058	A/C	—	uncertain significance
rs202192191	3:182,735,068	C/T	—	uncertain significance
rs150305281	3:182,735,069	G/A	—	likely benign
rs1553849443	3:182,735,073	A/C	—	uncertain significance
rs1354787415	3:182,735,079	A/G	—	uncertain significance
rs992786696	3:182,735,088	T/C	—	uncertain significance
rs370727510	3:182,735,093	C/T	—	likely benign
rs138937107	3:182,735,094	G/A	—	conflicting classifications of pathogenicity
rs2530014738	3:182,735,100	A/G	—	uncertain significance
rs903196916	3:182,735,109	C/T	—	uncertain significance
rs1577229985	3:182,735,114	T/C	—	likely benign
rs1043492520	3:182,735,119	C/A	—	uncertain significance
rs6786878	3:182,735,182	C/A	—	benign
rs2292056	3:182,735,211	T/G	—	benign
rs10804888	3:182,735,311	C/T	—	benign
rs73883994	3:182,735,319	G/T	—	benign
rs10937105	3:182,735,412	A/T	—	benign
rs77932064	3:182,737,824	A/C	—	benign
rs1261040968	3:182,737,905	G/A	—	likely benign
rs1712027129	3:182,737,909	T/C	—	likely benign
rs2108437702	3:182,737,911	T/C	—	likely benign
rs1194507396	3:182,737,925	A/G	—	uncertain significance
rs149017703	3:182,737,953	C/T	—	conflicting classifications of pathogenicity
rs199528231	3:182,737,954	G/A	—	conflicting classifications of pathogenicity
rs905321122	3:182,737,965	C/A	—	pathogenic
rs755699519	3:182,737,967	T/C	—	uncertain significance
rs1027703264	3:182,737,978	A/G	—	likely benign
rs983414779	3:182,737,986	A/C	—	uncertain significance
rs1311139055	3:182,737,987	G/C	—	pathogenic
rs142867987	3:182,738,001	G/A	—	uncertain significance
rs772498224	3:182,738,013	C/A	—	pathogenic
rs1399603246	3:182,738,020	T/G	—	likely benign
rs2530032256	3:182,738,022	C/A	—	likely pathogenic
rs2530032320	3:182,738,027	T/C	—	likely pathogenic
rs776901386	3:182,738,043	A/G	—	likely benign
rs9834143	3:182,738,159	A/G	—	benign
rs10937106	3:182,738,287	G/A	—	benign
rs11928508	3:182,739,738	C/T	—	—
rs73883998	3:182,739,950	T/C	—	benign
rs2530042514	3:182,740,196	A/G	—	likely benign
rs2108441301	3:182,740,198	A/T	—	likely benign
rs990505166	3:182,740,204	C/T	—	likely pathogenic
rs1057521696	3:182,740,214	T/C	—	likely benign
rs1382492613	3:182,740,216	G/A	—	likely benign
rs1577239619	3:182,740,223	A/G	—	likely benign
rs746389830	3:182,740,226	G/A	—	likely benign
rs2108441391	3:182,740,231	C/G	—	uncertain significance
rs758827154	3:182,740,232	C/T	—	likely benign
rs2108441402	3:182,740,234	G/A	—	likely benign
rs201782543	3:182,740,235	G/T	—	conflicting classifications of pathogenicity
rs747354023	3:182,740,241	C/A	—	likely benign
rs769042107	3:182,740,247	C/T	—	likely benign
rs777026304	3:182,740,248	G/A	—	likely benign
rs201745589	3:182,740,266	T/C	—	uncertain significance
rs1352360605	3:182,740,272	G/A	—	uncertain significance
rs2108441478	3:182,740,274	A/G	—	likely benign
rs147087448	3:182,740,277	T/C	—	likely benign
rs138480247	3:182,740,282	G/T	—	conflicting classifications of pathogenicity
rs2530043333	3:182,740,286	A/G	—	likely benign
rs377249142	3:182,740,292	G/C	—	uncertain significance
rs749885842	3:182,740,295	T/C	—	likely benign
rs2530043474	3:182,740,297	C/A	—	pathogenic
rs200651846	3:182,740,301	G/A	—	likely benign
rs569721834	3:182,740,302	C/T	—	likely benign
rs143892743	3:182,740,306	A/G	—	uncertain significance
rs200025893	3:182,740,310	A/G	—	likely benign
rs2108441635	3:182,740,313	A/G	—	likely benign
rs780499601	3:182,740,324	G/A	—	pathogenic

Showing 100 of 673 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.