GJA5

gap junction protein alpha 5

Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

Known Variants235 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886045242	1:147,228,899	C/T	—	likely benign
rs886045243	1:147,229,036	G/A	—	uncertain significance
rs886045244	1:147,229,084	T/C	—	uncertain significance
rs202133825	1:147,229,654	A/G	—	uncertain significance
rs36005900	1:147,229,662	G/A	—	likely benign
rs886045246	1:147,229,750	T/A	—	uncertain significance
rs587741640	1:147,229,762	C/T	—	uncertain significance
rs1232691592	1:147,229,772	T/A	—	uncertain significance
rs886045247	1:147,229,906	G/A	—	uncertain significance
rs200310520	1:147,229,937	G/C	—	uncertain significance
rs886045248	1:147,230,210	G/A	—	uncertain significance
rs886045249	1:147,230,224	A/G	—	uncertain significance
rs201046055	1:147,230,248	C/T	—	uncertain significance
rs1553226734	1:147,230,276	T/A	—	likely benign
rs886045250	1:147,230,279	T/C	—	uncertain significance
rs1663814488	1:147,230,281	G/T	—	uncertain significance
rs201657244	1:147,230,282	G/T	—	uncertain significance
rs1663814972	1:147,230,290	A/C	—	uncertain significance
rs1553226738	1:147,230,301	C/T	—	uncertain significance
rs1324379277	1:147,230,308	C/G	—	uncertain significance
rs2524607795	1:147,230,313	C/T	—	uncertain significance
rs2524607800	1:147,230,317	G/T	—	uncertain significance
rs782627991	1:147,230,319	C/T	—	uncertain significance
rs782278675	1:147,230,323	G/A	—	uncertain significance
rs145008952	1:147,230,324	C/G	—	uncertain significance
rs781918017	1:147,230,327	G/C	—	uncertain significance
rs782195867	1:147,230,331	C/T	—	uncertain significance
rs782650035	1:147,230,341	C/T	—	uncertain significance
rs2524607914	1:147,230,347	G/T	—	uncertain significance
rs116551187	1:147,230,352	C/T	—	conflicting classifications of pathogenicity
rs782175029	1:147,230,353	G/A	—	uncertain significance
rs1364041752	1:147,230,358	C/G	—	uncertain significance
rs1553226764	1:147,230,369	T/G	—	likely benign
rs782703462	1:147,230,370	C/T	—	uncertain significance
rs145523099	1:147,230,373	T/C	—	uncertain significance
rs782592443	1:147,230,374	T/G	—	conflicting classifications of pathogenicity
rs781856430	1:147,230,384	A/C	—	likely benign
rs1663821317	1:147,230,391	T/A	—	uncertain significance
rs782221270	1:147,230,394	C/A	—	uncertain significance
rs368532801	1:147,230,399	A/T	—	likely benign
rs369631383	1:147,230,400	C/T	—	uncertain significance
rs2148958748	1:147,230,402	A/T	—	likely benign
rs782450132	1:147,230,405	C/A	—	uncertain significance
rs1663823052	1:147,230,406	T/C	—	uncertain significance
rs782224153	1:147,230,409	A/G	—	uncertain significance
rs1364547914	1:147,230,415	C/G	—	conflicting classifications of pathogenicity
rs1261537063	1:147,230,421	C/G	—	uncertain significance
rs1663824004	1:147,230,422	C/T	—	uncertain significance
rs2524608292	1:147,230,424	G/C	—	uncertain significance
rs781992965	1:147,230,427	G/A	—	uncertain significance
rs782422906	1:147,230,434	C/T	—	uncertain significance
rs1663824896	1:147,230,439	C/T	—	uncertain significance
rs781925387	1:147,230,442	C/T	—	uncertain significance
rs372883419	1:147,230,443	G/A	—	uncertain significance
rs2148958793	1:147,230,444	T/C	—	likely benign
rs1553226803	1:147,230,452	C/T	—	uncertain significance
rs1454021397	1:147,230,454	G/C	—	uncertain significance
rs2524608427	1:147,230,456	G/A	—	likely benign
rs1332716726	1:147,230,469	G/A	—	uncertain significance
rs1663827473	1:147,230,477	T/C	—	likely benign
rs2148958832	1:147,230,479	G/A	—	uncertain significance
rs782795886	1:147,230,480	G/A	—	likely benign
rs1384966203	1:147,230,483	G/A	—	likely benign
rs1553226824	1:147,230,484	G/A	—	uncertain significance
rs1663828689	1:147,230,487	A/T	—	uncertain significance
rs1663829283	1:147,230,504	A/G	—	likely benign
rs2524608646	1:147,230,511	A/G	—	uncertain significance
rs2148958862	1:147,230,514	T/C	—	uncertain significance
rs2524608686	1:147,230,518	C/A	—	uncertain significance
rs1386910689	1:147,230,523	G/A	—	uncertain significance
rs782523810	1:147,230,524	G/A	—	uncertain significance
rs370225026	1:147,230,526	C/T	—	uncertain significance
rs782337783	1:147,230,531	C/A	—	uncertain significance
rs782608542	1:147,230,532	T/G	—	uncertain significance
rs2148958892	1:147,230,534	C/T	—	likely benign
rs116155008	1:147,230,549	G/A	—	likely benign
rs782114690	1:147,230,552	G/A	—	likely benign
rs148311482	1:147,230,554	G/A	—	uncertain significance
rs200371777	1:147,230,557	G/T	—	uncertain significance
rs1553226857	1:147,230,558	T/C	—	likely benign
rs781852108	1:147,230,560	G/A	—	uncertain significance
rs1663834363	1:147,230,567	G/A	—	likely benign
rs782792159	1:147,230,571	T/G	—	uncertain significance
rs781896001	1:147,230,575	C/A	—	uncertain significance
rs1553226871	1:147,230,578	T/C	—	uncertain significance
rs2148958937	1:147,230,582	C/G	—	likely benign
rs377562316	1:147,230,591	G/T	—	likely benign
rs1557942871	1:147,230,603	G/T	—	uncertain significance
rs2148958978	1:147,230,609	A/G	—	likely benign
rs1553226890	1:147,230,613	A/G	—	uncertain significance
rs782110728	1:147,230,617	G/A	—	uncertain significance
rs2148958988	1:147,230,620	G/A	—	uncertain significance
rs150432230	1:147,230,621	C/T	—	likely benign
rs906244249	1:147,230,622	C/A	—	uncertain significance
rs782417838	1:147,230,623	G/A	—	uncertain significance
rs782706541	1:147,230,625	G/C	—	uncertain significance
rs1476854402	1:147,230,638	G/A	—	uncertain significance
rs2148959007	1:147,230,647	T/A	—	uncertain significance
rs387906615	1:147,230,662	G/A	synonymous variant	likely benign
rs1553226908	1:147,230,682	C/G	—	uncertain significance

Showing 100 of 235 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.