ACTA1

actin alpha 1, skeletal muscle

Summary

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]

Known Variants389 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs551585351	1:229,566,998	C/T	—	conflicting classifications of pathogenicity
rs1403018747	1:229,567,180	C/T	—	uncertain significance
rs1553255288	1:229,567,248	A/G	—	pathogenic
rs1571892193	1:229,567,250	A/G	—	likely pathogenic
rs1659932688	1:229,567,252	G/A	—	conflicting classifications of pathogenicity
rs1571892196	1:229,567,253	C/A	—	likely pathogenic
rs142311664	1:229,567,255	T/G	—	likely pathogenic
rs1571892209	1:229,567,257	T/C	—	likely pathogenic
rs2527435277	1:229,567,261	G/C	—	likely pathogenic
rs886046075	1:229,567,267	G/C	—	uncertain significance
rs1553255290	1:229,567,271	G/T	—	uncertain significance
rs1553255293	1:229,567,274	G/A	—	pathogenic
rs755448851	1:229,567,276	G/A	—	likely benign
rs768081822	1:229,567,279	G/A	—	uncertain significance
rs1199816356	1:229,567,282	C/T	—	likely benign
rs1452648745	1:229,567,297	C/T	—	likely benign
rs121909524	1:229,567,305	T/G	missense variant	pathogenic
rs587777354	1:229,567,306	C/A	missense variant	pathogenic
rs745494410	1:229,567,309	C/G	—	uncertain significance
rs1553255298	1:229,567,311	T/C	—	uncertain significance
rs375945657	1:229,567,315	C/T	—	conflicting classifications of pathogenicity
rs2527435481	1:229,567,319	A/G	—	uncertain significance
rs2102735014	1:229,567,320	A/G	—	likely pathogenic
rs1659934469	1:229,567,323	T/C	—	uncertain significance
rs2527435493	1:229,567,325	G/A	—	uncertain significance
rs1553255301	1:229,567,326	A/G	—	likely pathogenic
rs746838863	1:229,567,330	C/A	—	likely benign
rs2102735031	1:229,567,331	G/A	—	pathogenic
rs1571892307	1:229,567,334	G/A	—	uncertain significance
rs2102735038	1:229,567,337	A/T	—	likely pathogenic
rs2527435573	1:229,567,347	C/T	—	uncertain significance
rs1558081360	1:229,567,349	C/T	—	uncertain significance
rs2102735049	1:229,567,350	C/G	—	uncertain significance
rs1349683355	1:229,567,351	G/C	—	uncertain significance
rs2527435594	1:229,567,353	T/C	—	uncertain significance
rs2527435635	1:229,567,362	A/C	—	uncertain significance
rs2527435645	1:229,567,365	A/T	—	uncertain significance
rs1553255306	1:229,567,366	T/G	—	uncertain significance
rs201493638	1:229,567,370	C/T	—	uncertain significance
rs1180279387	1:229,567,372	C/G	—	likely pathogenic
rs121909528	1:229,567,373	T/G	missense variant	pathogenic
rs1057518493	1:229,567,376	G/T	missense variant	pathogenic
rs1558081384	1:229,567,377	G/C	—	likely pathogenic
rs1553255312	1:229,567,379	G/C	—	pathogenic
rs121909531	1:229,567,380	G/A	missense variant	pathogenic
rs74897770	1:229,567,384	G/T	—	likely benign
rs2527435758	1:229,567,399	A/G	—	likely benign
rs767883432	1:229,567,401	C/G	—	likely benign
rs1396555605	1:229,567,403	C/A	—	likely benign
rs2527435972	1:229,567,458	C/G	—	likely benign
rs549197605	1:229,567,465	C/A	—	uncertain significance
rs372686280	1:229,567,467	C/A	—	pathogenic
rs2527436003	1:229,567,472	A/G	—	uncertain significance
rs398122936	1:229,567,474	C/T	synonymous variant	likely benign
rs1553255334	1:229,567,477	C/G	—	uncertain significance
rs2102735175	1:229,567,478	A/T	—	likely pathogenic
rs2527436034	1:229,567,483	G/T	—	uncertain significance
rs765996798	1:229,567,492	C/T	—	uncertain significance
rs1571892527	1:229,567,493	A/T	—	uncertain significance
rs1659940726	1:229,567,494	G/C	—	uncertain significance
rs374599062	1:229,567,495	C/T	—	likely benign
rs1571892542	1:229,567,498	G/A	—	likely benign
rs2527436089	1:229,567,504	C/G	—	uncertain significance
rs2527436164	1:229,567,533	G/A	—	likely pathogenic
rs878854374	1:229,567,535	T/C	missense variant	pathogenic
rs2102735230	1:229,567,536	A/G	—	uncertain significance
rs2527436174	1:229,567,538	A/C	—	pathogenic
rs2102735242	1:229,567,547	C/T	—	uncertain significance
rs749262171	1:229,567,552	C/T	—	likely benign
rs1553255349	1:229,567,560	C/A	—	uncertain significance
rs533868659	1:229,567,561	G/T	—	uncertain significance
rs2527436245	1:229,567,569	C/T	—	pathogenic
rs770931836	1:229,567,570	A/G	—	conflicting classifications of pathogenicity
rs746042348	1:229,567,576	G/A	—	likely benign
rs121909529	1:229,567,577	T/A	missense variant	pathogenic
rs2527436268	1:229,567,578	C/A	—	uncertain significance
rs2527436273	1:229,567,583	C/T	—	uncertain significance
rs1553255354	1:229,567,590	C/G	—	pathogenic
rs140074813	1:229,567,591	G/A	—	conflicting classifications of pathogenicity
rs1659943773	1:229,567,592	A/T	—	uncertain significance
rs2527436292	1:229,567,595	T/C	—	pathogenic
rs2527436311	1:229,567,604	A/C	—	pathogenic
rs2102735270	1:229,567,612	G/C	—	pathogenic
rs2527436326	1:229,567,614	T/G	—	likely pathogenic
rs1659944113	1:229,567,616	T/C	—	pathogenic
rs2102735278	1:229,567,617	A/G	—	pathogenic
rs775891184	1:229,567,622	G/T	—	uncertain significance
rs1571892703	1:229,567,624	C/A	—	likely pathogenic
rs1553255357	1:229,567,637	G/A	—	pathogenic
rs1553255360	1:229,567,646	A/C	—	likely pathogenic
rs1553255361	1:229,567,647	T/C	—	conflicting classifications of pathogenicity
rs1553255362	1:229,567,649	C/T	—	pathogenic
rs1237221320	1:229,567,650	C/A	—	pathogenic
rs1301902450	1:229,567,651	T/A	—	pathogenic
rs1217853023	1:229,567,658	C/T	—	uncertain significance
rs1659945481	1:229,567,659	G/T	—	conflicting classifications of pathogenicity
rs1571892758	1:229,567,660	C/T	—	likely benign
rs6673359	1:229,567,663	C/A	—	likely benign
rs1260498691	1:229,567,668	A/T	—	likely benign
rs187159043	1:229,567,692	C/A	—	likely benign

Showing 100 of 389 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.