FUCA1

alpha-L-fucosidase 1

Summary

The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]

Known Variants351 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886046321	1:24,171,661	A/T	—	uncertain significance
rs886046322	1:24,171,678	T/C	—	uncertain significance
rs1023386054	1:24,171,863	G/T	—	uncertain significance
rs886046324	1:24,171,919	G/T	—	uncertain significance
rs143441916	1:24,171,935	A/G	—	uncertain significance
rs1639121464	1:24,172,108	A/G	—	uncertain significance
rs2148436869	1:24,172,214	T/A	—	likely benign
rs2148436874	1:24,172,220	C/G	—	likely benign
rs770042348	1:24,172,222	G/T	—	uncertain significance
rs774128532	1:24,172,228	T/C	—	uncertain significance
rs377360830	1:24,172,246	C/T	—	uncertain significance
rs147866670	1:24,172,247	G/A	—	likely benign
rs750761317	1:24,172,259	G/T	—	likely benign
rs372223382	1:24,172,271	G/C	—	likely benign
rs924511473	1:24,172,280	G/A	—	likely benign
rs1325834260	1:24,172,283	G/A	—	likely benign
rs2521615640	1:24,172,286	G/C	—	likely benign
rs1639125891	1:24,172,297	C/G	—	uncertain significance
rs1639127458	1:24,172,311	C/T	—	uncertain significance
rs2521615911	1:24,172,320	T/C	—	uncertain significance
rs2521615968	1:24,172,325	T/C	—	likely benign
rs118204450	1:24,172,327	G/A	stop gained	pathogenic
rs150422575	1:24,172,332	C/T	—	uncertain significance
rs2148436980	1:24,172,334	C/A	—	likely benign
rs764162683	1:24,172,340	T/C	—	likely benign
rs2521616187	1:24,172,346	C/T	—	likely pathogenic
rs1374780942	1:24,172,359	A/T	—	likely benign
rs1639128770	1:24,172,363	G/A	—	likely benign
rs777928698	1:24,172,550	C/T	—	likely benign
rs749532205	1:24,172,556	C/T	—	likely benign
rs771229488	1:24,172,557	T/G	—	conflicting classifications of pathogenicity
rs2521617594	1:24,172,562	A/T	—	pathogenic
rs897246170	1:24,172,573	T/G	—	likely benign
rs2521617668	1:24,172,575	A/C	—	uncertain significance
rs776717041	1:24,172,587	G/A	—	uncertain significance
rs1310643655	1:24,172,588	G/A	—	likely benign
rs80358199	1:24,172,595	A/C	missense variant	pathogenic
rs1349221851	1:24,172,598	T/A	—	uncertain significance
rs764863416	1:24,172,608	C/A	—	pathogenic
rs2521617917	1:24,172,610	T/A	—	uncertain significance
rs1446748566	1:24,172,615	T/C	—	likely benign
rs1026833196	1:24,172,618	C/T	—	pathogenic
rs548070711	1:24,172,632	T/C	—	uncertain significance
rs766121368	1:24,172,634	G/A	—	uncertain significance
rs1570670906	1:24,172,641	C/T	—	uncertain significance
rs2521618643	1:24,172,644	C/T	—	uncertain significance
rs370306169	1:24,172,645	C/T	—	likely benign
rs149168482	1:24,172,646	G/A	—	uncertain significance
rs1639135764	1:24,172,650	C/T	—	uncertain significance
rs2521618823	1:24,172,660	A/C	—	pathogenic
rs1324596939	1:24,172,668	G/A	—	likely benign
rs1438011380	1:24,172,680	A/G	—	likely benign
rs779212890	1:24,172,682	C/T	—	likely benign
rs145900261	1:24,172,882	C/T	—	likely benign
rs1326350955	1:24,175,119	C/T	—	likely benign
rs929406340	1:24,175,122	C/G	—	likely benign
rs2148438645	1:24,175,123	A/G	—	likely benign
rs778966131	1:24,175,130	A/G	—	likely benign
rs80358197	1:24,175,139	C/T	stop gained	pathogenic
rs1194134430	1:24,175,141	T/C	—	likely benign
rs531818587	1:24,175,147	T/C	—	likely benign
rs1474078454	1:24,175,150	T/A	—	likely benign
rs114490852	1:24,175,151	G/A	—	likely benign
rs80358195	1:24,175,161	C/A	stop gained	pathogenic
rs2521634369	1:24,175,163	C/G	—	uncertain significance
rs1395208337	1:24,175,165	T/C	—	likely benign
rs145603001	1:24,175,172	C/T	—	benign
rs548735209	1:24,175,173	G/A	—	uncertain significance
rs794727774	1:24,175,174	C/T	stop gained	pathogenic
rs984479234	1:24,175,176	A/G	—	uncertain significance
rs370453371	1:24,175,180	T/C	—	conflicting classifications of pathogenicity
rs2521634684	1:24,175,183	G/A	—	likely benign
rs374427540	1:24,175,197	C/T	—	uncertain significance
rs752480853	1:24,175,205	T/C	—	conflicting classifications of pathogenicity
rs1639194544	1:24,175,206	T/C	—	likely benign
rs1341681556	1:24,175,207	G/A	—	likely benign
rs1443768545	1:24,175,210	G/A	—	likely benign
rs864309551	1:24,175,217	C/A	missense variant	uncertain significance
rs777813005	1:24,175,222	C/T	—	likely benign
rs1393793214	1:24,175,223	C/T	—	uncertain significance
rs749269943	1:24,175,224	C/T	—	uncertain significance
rs1639195467	1:24,175,234	A/G	—	likely benign
rs2521635192	1:24,175,242	C/A	—	pathogenic
rs1557506070	1:24,175,245	G/A	—	pathogenic
rs1380905344	1:24,175,251	T/C	—	uncertain significance
rs1230687658	1:24,175,258	A/G	—	likely benign
rs778451235	1:24,175,261	C/G	—	likely benign
rs150532144	1:24,175,264	T/A	—	likely benign
rs1057521087	1:24,175,265	C/T	missense variant	pathogenic
rs1232508413	1:24,175,267	A/G	—	likely benign
rs771696380	1:24,175,273	A/C	—	likely benign
rs769788583	1:24,175,275	T/C	—	uncertain significance
rs560947454	1:24,175,282	A/G	—	benign
rs775385097	1:24,175,283	A/G	—	uncertain significance
rs2148438798	1:24,175,285	G/A	—	likely benign
rs1381233051	1:24,175,295	T/C	—	uncertain significance
rs776913133	1:24,175,299	T/A	—	conflicting classifications of pathogenicity
rs1013512148	1:24,175,301	C/T	—	uncertain significance
rs1177361428	1:24,175,304	C/T	—	pathogenic
rs950763723	1:24,175,310	C/T	—	uncertain significance

Showing 100 of 351 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.