FBN3

fibrillin 3

Summary

This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]

Known Variants1,006 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs35794930	19:8,130,867	G/T	—	likely benign
rs760179129	19:8,130,876	C/T	—	uncertain significance
rs529823750	19:8,130,877	C/T	—	uncertain significance
rs2512491836	19:8,130,883	G/A	—	uncertain significance
rs571527091	19:8,130,901	C/T	—	uncertain significance
rs139098536	19:8,130,912	C/T	—	likely benign
rs200422303	19:8,130,913	G/A	—	uncertain significance
rs774930376	19:8,130,929	C/A	—	likely benign
rs146438852	19:8,130,933	C/T	—	uncertain significance
rs372292848	19:8,130,962	G/A	—	likely benign
rs990576924	19:8,130,966	C/T	—	uncertain significance
rs764446097	19:8,130,981	C/G	—	uncertain significance
rs376621511	19:8,130,982	G/A	—	uncertain significance
rs34941422	19:8,131,003	C/T	—	conflicting classifications of pathogenicity
rs780834583	19:8,131,004	G/A	—	likely benign
rs1294126203	19:8,131,006	G/A	—	uncertain significance
rs372313415	19:8,131,009	C/T	—	uncertain significance
rs374334624	19:8,131,010	G/A	—	likely benign
rs2081384615	19:8,131,011	A/G	—	uncertain significance
rs770811627	19:8,131,016	G/A	—	likely benign
rs760693740	19:8,131,020	C/T	—	uncertain significance
rs371800341	19:8,131,021	G/A	—	uncertain significance
rs143551340	19:8,131,027	G/A	—	likely benign
rs148313867	19:8,131,034	T/C	—	likely benign
rs752046207	19:8,131,049	C/T	—	likely benign
rs143150244	19:8,131,050	G/A	—	conflicting classifications of pathogenicity
rs75174438	19:8,131,053	C/T	—	uncertain significance
rs200637796	19:8,131,069	G/A	—	uncertain significance
rs558440722	19:8,131,072	C/G	—	uncertain significance
rs138322146	19:8,131,073	G/A	—	benign
rs144078033	19:8,131,077	C/T	—	conflicting classifications of pathogenicity
rs139990648	19:8,131,103	C/G	—	uncertain significance
rs1373544968	19:8,131,107	G/A	—	uncertain significance
rs370743995	19:8,131,134	G/A	—	uncertain significance
rs145807215	19:8,131,826	A/G	downstream gene variant	—
rs930019198	19:8,136,937	G/A	—	uncertain significance
rs369315242	19:8,136,955	G/A	—	uncertain significance
rs375603937	19:8,136,957	C/T	—	uncertain significance
rs149393183	19:8,136,964	G/A	—	uncertain significance
rs2081526887	19:8,136,965	G/A	—	likely benign
rs144808655	19:8,136,983	A/G	—	benign
rs773398929	19:8,136,989	C/T	—	likely benign
rs2512522518	19:8,136,993	C/T	—	uncertain significance
rs2081527834	19:8,136,994	A/G	—	uncertain significance
rs771221042	19:8,136,997	C/T	—	uncertain significance
rs2512522656	19:8,137,011	G/C	—	uncertain significance
rs144060152	19:8,137,034	C/T	—	likely benign
rs764500258	19:8,137,040	G/C	—	uncertain significance
rs10420783	19:8,137,052	G/A	—	benign
rs951559826	19:8,137,058	G/A	—	likely benign
rs141490945	19:8,137,069	C/T	—	conflicting classifications of pathogenicity
rs151208986	19:8,137,070	G/A	—	likely benign
rs374632165	19:8,137,096	G/A	—	benign
rs7256904	19:8,137,102	G/T	—	benign
rs2512529705	19:8,137,949	T/C	—	uncertain significance
rs1397438538	19:8,137,950	T/C	—	uncertain significance
rs758436991	19:8,137,981	C/T	—	uncertain significance
rs147675031	19:8,138,000	C/T	—	benign
rs774056144	19:8,138,034	C/T	—	uncertain significance
rs1336997699	19:8,138,036	T/G	—	likely benign
rs142418616	19:8,138,038	C/T	—	likely benign
rs374630040	19:8,138,041	C/T	—	uncertain significance
rs116210236	19:8,138,042	G/A	—	benign
rs758489983	19:8,138,048	A/G	—	likely benign
rs992732822	19:8,138,049	T/A	—	uncertain significance
rs7257948	19:8,138,054	C/A	—	benign
rs371456112	19:8,138,068	C/T	—	uncertain significance
rs374752815	19:8,138,069	G/A	—	likely benign
rs35318692	19:8,138,104	C/T	—	likely benign
rs760264358	19:8,138,109	C/T	—	uncertain significance
rs368849172	19:8,138,110	G/A	—	uncertain significance
rs775168991	19:8,138,130	C/T	—	conflicting classifications of pathogenicity
rs73923958	19:8,138,139	G/A	—	conflicting classifications of pathogenicity
rs564634841	19:8,138,140	C/T	—	likely benign
rs200245318	19:8,138,146	C/T	—	uncertain significance
rs756551000	19:8,138,153	G/T	—	likely benign
rs148374540	19:8,138,158	G/A	—	uncertain significance
rs374904139	19:8,138,159	C/T	—	likely benign
rs771566504	19:8,138,160	G/A	—	uncertain significance
rs779590198	19:8,138,177	C/T	—	likely benign
rs768296078	19:8,138,191	G/A	—	likely benign
rs746510969	19:8,139,947	T/C	—	likely benign
rs2081607600	19:8,139,957	A/G	—	uncertain significance
rs61729621	19:8,139,977	G/A	—	benign
rs150872554	19:8,139,983	G/T	—	likely benign
rs142975316	19:8,140,008	C/T	—	uncertain significance
rs35477781	19:8,140,037	A/C	—	benign
rs200311384	19:8,140,047	C/T	—	uncertain significance
rs749013131	19:8,140,055	C/A	—	likely benign
rs774393336	19:8,140,083	T/C	—	likely benign
rs373991096	19:8,140,087	G/C	—	likely benign
rs933211608	19:8,140,091	G/C	—	likely benign
rs201413560	19:8,140,148	A/G	—	benign
rs200805247	19:8,140,156	C/T	—	likely benign
rs143120483	19:8,140,187	C/T	—	uncertain significance
rs2081614762	19:8,140,188	T/C	—	uncertain significance
rs760093631	19:8,140,196	G/T	—	uncertain significance
rs540174603	19:8,140,220	C/T	—	likely benign
rs375723933	19:8,140,221	G/A	—	uncertain significance
rs778921959	19:8,140,231	C/T	—	likely benign

Showing 100 of 1,006 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.