FHL1

four and a half LIM domains 1

Summary

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

Known Variants357 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs28494155	X:135,229,627	A/C	—	benign
rs777858178	X:135,229,730	C/T	—	benign
rs1556630646	X:135,229,779	C/A	—	likely benign
rs1158663274	X:135,229,780	C/T	—	likely benign
rs895540444	X:135,229,790	A/G	—	uncertain significance
rs1013945435	X:135,229,797	C/G	—	likely benign
rs374235006	X:135,229,881	C/G	—	likely benign
rs184218793	X:135,252,133	G/C	—	likely benign
rs367650287	X:135,252,156	G/T	—	likely benign
rs5975692	X:135,266,089	A/G	intron variant	—
rs5975695	X:135,268,469	T/C	intron variant	—
rs926904	X:135,271,245	T/C	intron variant	—
rs926905	X:135,271,311	G/T	regulatory region variant	—
rs2521108340	X:135,278,995	C/T	—	uncertain significance
rs192893870	X:135,279,019	G/A	—	likely benign
rs774418125	X:135,279,022	G/T	—	likely benign
rs2521114370	X:135,279,262	T/G	—	likely benign
rs1421289849	X:135,279,274	G/A	—	uncertain significance
rs370725689	X:135,279,293	G/A	—	uncertain significance
rs17001989	X:135,288,284	A/G	—	benign
rs17284031	X:135,288,314	C/T	—	likely benign
rs374346567	X:135,288,561	C/T	—	likely benign
rs113620195	X:135,288,562	G/A	—	likely benign
rs1603270381	X:135,288,572	C/G	—	uncertain significance
rs2521246350	X:135,288,593	T/C	—	likely pathogenic
rs146125558	X:135,288,596	C/T	—	conflicting classifications of pathogenicity
rs2073841429	X:135,288,597	G/A	—	likely benign
rs2148371451	X:135,288,598	G/T	—	pathogenic
rs1230410861	X:135,288,602	A/G	—	uncertain significance
rs1297632047	X:135,288,603	G/A	—	likely benign
rs2073841797	X:135,288,606	T/G	—	uncertain significance
rs2073842039	X:135,288,611	G/T	—	uncertain significance
rs2521246943	X:135,288,615	C/G	—	uncertain significance
rs2521247083	X:135,288,617	A/C	—	uncertain significance
rs2148371522	X:135,288,618	C/T	—	likely benign
rs2148371530	X:135,288,619	T/C	—	uncertain significance
rs2148371537	X:135,288,620	G/A	—	uncertain significance
rs1449701149	X:135,288,623	G/A	—	uncertain significance
rs2521247410	X:135,288,630	C/T	—	likely benign
rs1313810606	X:135,288,631	T/C	—	conflicting classifications of pathogenicity
rs2521247546	X:135,288,633	G/C	—	uncertain significance
rs2521247645	X:135,288,634	C/G	—	uncertain significance
rs2521247964	X:135,288,648	T/C	—	likely benign
rs2073842775	X:135,288,651	G/A	—	likely benign
rs1060502840	X:135,288,651	—	—	pathogenic
rs1187549360	X:135,288,653	A/G	—	uncertain significance
rs2521248276	X:135,288,654	A/G	—	likely benign
rs1370793393	X:135,288,656	A/C	—	uncertain significance
rs140149764	X:135,288,657	G/A	—	likely benign
rs772911535	X:135,288,661	G/A	—	uncertain significance
rs2521248593	X:135,288,663	C/A	—	likely benign
rs1569530250	X:135,288,664	C/T	—	uncertain significance
rs2521248920	X:135,288,672	C/G	—	uncertain significance
rs2521248958	X:135,288,675	C/T	—	likely benign
rs1603270464	X:135,288,678	G/A	—	likely benign
rs1226091388	X:135,288,680	A/G	—	uncertain significance
rs2521249141	X:135,288,682	T/C	—	uncertain significance
rs2521249242	X:135,288,686	T/C	—	uncertain significance
rs1207531202	X:135,288,689	A/G	—	uncertain significance
rs754421860	X:135,288,691	A/G	—	uncertain significance
rs1265392418	X:135,288,693	G/T	—	uncertain significance
rs368235882	X:135,288,699	T/A	—	pathogenic
rs1458693544	X:135,288,702	C/T	—	likely benign
rs886043917	X:135,288,704	A/G	—	uncertain significance
rs770499208	X:135,288,708	C/T	—	likely benign
rs2148371880	X:135,288,709	T/C	—	uncertain significance
rs1556638703	X:135,288,710	G/A	—	uncertain significance
rs1192668098	X:135,288,711	T/C	—	likely benign
rs2521250280	X:135,288,720	C/T	—	likely benign
rs1385440296	X:135,288,721	C/T	—	uncertain significance
rs11557264	X:135,288,722	G/A	—	conflicting classifications of pathogenicity
rs780792982	X:135,288,726	G/A	—	likely benign
rs2073846647	X:135,288,730	A/T	—	uncertain significance
rs1424503926	X:135,288,732	C/T	—	likely benign
rs1467233713	X:135,288,733	G/A	—	uncertain significance
rs372301312	X:135,288,737	C/T	—	uncertain significance
rs1394298803	X:135,288,738	G/A	—	likely benign
rs2521251071	X:135,288,741	C/T	—	likely benign
rs2521251136	X:135,288,742	T/C	—	uncertain significance
rs1327221666	X:135,288,743	C/T	—	uncertain significance
rs182106777	X:135,288,752	C/T	—	likely benign
rs763404867	X:135,288,753	G/A	—	uncertain significance
rs2521251504	X:135,288,754	G/C	—	likely benign
rs2148372078	X:135,288,761	C/G	—	likely benign
rs1213672831	X:135,288,764	T/C	—	likely benign
rs764595951	X:135,288,765	G/T	—	likely benign
rs73633451	X:135,289,118	C/T	—	benign
rs1478843818	X:135,289,156	C/T	—	likely benign
rs1417806216	X:135,289,161	T/C	—	likely benign
rs1406310746	X:135,289,162	G/A	—	likely benign
rs1178092343	X:135,289,166	G/C	—	likely benign
rs2073859427	X:135,289,174	G/A	—	conflicting classifications of pathogenicity
rs1603270864	X:135,289,181	C/T	—	uncertain significance
rs917304507	X:135,289,183	C/T	—	likely benign
rs758269641	X:135,289,185	A/G	—	uncertain significance
rs2073860048	X:135,289,186	T/A	—	pathogenic
rs1471334826	X:135,289,192	C/A	—	uncertain significance
rs1343871742	X:135,289,193	C/T	—	uncertain significance
rs143791173	X:135,289,195	C/A	—	likely benign
rs746834335	X:135,289,209	C/T	—	uncertain significance

Showing 100 of 357 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.