All variants in the ACTA1 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001100.3 transcript reference sequence.

445 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Codon change     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.-66C>T r.(=) p.(=) - - benign g.229569804G>A g.229434057G>A - - ACTA1_000271 - - - rs78588865 Germline - - - 0 - Andreas Laner
-/. - c.-66C>T r.(?) p.(=) - - benign g.229569804G>A g.229434057G>A - - ACTA1_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 1 c.-66_-65delinsTC r.(?) p.(=) - - benign g.229569803_229569804delinsGA g.229434056_229434057delinsGA - - ACTA1_000200 rs605428; rs605430 - - - Germline - - - 0 - Kristen Nowak
-/. - c.-65T>C r.(=) p.(=) - - benign g.229569803A>G g.229434056A>G - - ACTA1_000270 - - - rs605430 Germline - - - 0 - Andreas Laner
-/. - c.-65T>C r.(?) p.(=) - - benign g.229569803A>G g.229434056A>G - - ACTA1_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.-12-61del r.(=) p.(=) - - VUS g.229568942del g.229433195del - - ACTA1_000279 - - - rs6667660 Germline - - - 0 - Andreas Laner
+/+ _1_7_ c.(?_-12)_(*254_?)del r.0? p.0? - - pathogenic g.(?_229566992)_(229568874_?)del - - - ACTA1_000258 Deletion including at least exons 2 to 7 (all the coding exons) of ACTA1 PubMed: Friedman et al 2014 - - Germline - - - 0 - Kristen Nowak
-/- 3i c.454+30_454+59CCCGCC[3_5] r.(=) p.(=) - - benign g.229568244_229568273CCCGCC[3_5] g.229432497_229432526[3_5] - - ACTA1_000152 known polymorphism PubMed: Nowak et al, 1999, PubMed: Graziano et al, 2004 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.7G>T r.(?) p.(Asp3Tyr) GAC > TAC - pathogenic g.229568856C>A g.229433109C>A D1Y - ACTA1_000001 - PubMed: Kaindl et al, 2004, OMIM:var0009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
+/? 2 c.16G>A r.(?) p.(Glu6Lys) - - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - - - - Germline - - - 0 - Tom Winder
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG>AAG - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - - - - De novo - - - 0 - Kristen Nowak
?/? 2 c.24C>A r.(?) p.(=) - - VUS g.229568839G>T g.229433092G>T - - ACTA1_000235 from website {DBsub-Emory} - - - Unknown - - - 0 - Madhuri Hegde
+/+ 2 c.37G>A r.(?) p.(Asp13Asn) GAC > AAC - pathogenic g.229568826C>T g.229433079C>T - - ACTA1_000160 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.44G>A r.(?) p.(Gly15Asp) GGC > GAC - pathogenic g.229568819C>T g.229433072C>T - - ACTA1_000225 - PubMed: Stenzel et al 2010 - - De novo - - - 0 - Kristen Nowak
+/. - c.44G>A r.(?) p.(Gly15Asp) - - pathogenic g.229568819C>T g.229433072C>T - - ACTA1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC - pathogenic g.229568814C>G g.229433067C>G G15R - ACTA1_000003 - PubMed: Nowak et al, 1999, OMIM:var0003 - - De novo - - - 0 - Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Goebel et al, 2006, PubMed: Goebel et al, 2004 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.60A>C r.(?) p.(Lys20Asn) AAA>AAC - pathogenic g.229568803T>G g.229433056T>G - - ACTA1_000295 - - - - De novo - - - 0 - Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Sparrow et al, 2003 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
+?/? 2 c.83C>A r.(?) p.(Ala28Asp) GCC>GAC - likely pathogenic g.229568780G>T g.229433033G>T - - ACTA1_000266 Not present in ExAC (15.8.15) but p.(Ala28Gly) and p.(Ala28Ser) are both present at 1:119,000 alleles. Other members of family not yet analysed. - - - Unknown - - - 0 - Kristen Nowak
+?/+? 2 c.89G>A r.(?) p.(Arg30Lys) AGG > AAG - likely pathogenic g.229568774C>T g.229433027C>T - - ACTA1_000005 ?unaffected father carries the same mutation PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - 0 - Alan Beggs
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.109G>T r.(?) p.(Val37Leu) GTG > TTG - pathogenic g.229568754C>A g.229433007C>A - - ACTA1_000202 Same amino acid change p.Val37Leu as previous 7 mutations but different DNA change GTG>TTG rather than GTG>CTG PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.109G>T r.(?) p.(Val37Leu) GTG > TTG - pathogenic g.229568754C>A g.229433007C>A - - ACTA1_000202 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
+/+ 2 c.110T>C r.(?) p.(Val37Ala) GTG > GCG - pathogenic g.229568753A>G g.229433006A>G - - ACTA1_000161 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.112G>A r.(?) p.(Gly38Ser) GGC > AGC - pathogenic g.229568751C>T g.229433004C>T - - ACTA1_000246 - - - - De novo - - - 0 - Kristen Nowak
+/+ 2 c.113G>C r.(?) p.(Gly38Ala) GGC > GCC - pathogenic g.229568750C>G g.229433003C>G - - ACTA1_000007 parents not tested PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
?/. - c.113G>C r.(?) p.(Gly38Ala) - - VUS g.229568750C>G g.229433003C>G - - ACTA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - 0 - Alan Beggs
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.121C>T r.(?) p.(Arg41*) CGA > TGA - pathogenic g.229568742G>A g.229432995G>A - - ACTA1_000009 both unaffected parents heterozygous PubMed: Nowak et al, 2007, PubMed: Sparrow et al, 2003 - - Germline - - - 0 - Kristen Nowak
+?/+? 2 c.122G>A r.(?) p.(Arg41Gln) CGA > CAA - likely pathogenic g.229568741C>T g.229432994C>T - - ACTA1_000229 - - - - De novo - - - 0 - Tom Winder
+?/. - c.122G>T r.(?) p.(Arg41Leu) - - likely pathogenic g.229568741C>A - - - ACTA1_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003 - - De novo - - - 0 - Alan Beggs
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Sparrow et al, 2003 - - De novo - - - 0 - Kristen Nowak
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Graziano et al, 2004 - - De novo - - - 0 - Kristen Nowak
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - Germline - - - 0 - Alan Beggs
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
?/? 2i c.129+31C>A r.(?) p.(=) - - benign g.229568703G>T g.229432956G>T - - ACTA1_000236 from website {DBsub-Emory} - - - Unknown - - - 0 - Madhuri Hegde
-/. - c.130-10G>C r.(=) p.(=) - - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 - - - rs4127148 Germline - - - 0 - Andreas Laner
-/- 2i c.130-10G>C r.(?) p.(?) - - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 - PubMed: Graziano et al, 2004 - rs41271481 Germline - - - 0 - Kristen Nowak
-/? 2i c.130-10G>C r.(?) p.(=) - - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 from website {DBsub-Emory} - - rs41271481 Unknown - - - 0 - Madhuri Hegde
-/. - c.130-10G>C r.(=) p.(=) - - benign g.229568637C>G g.229432890C>G ACTA1(NM_001100.3):c.130-10G>C - ACTA1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.130-10G>C r.(=) p.(=) - - benign g.229568637C>G g.229432890C>G ACTA1(NM_001100.3):c.130-10G>C - ACTA1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.130-5T>C r.spl? p.(=) - - benign g.229568632A>G g.229432885A>G - - ACTA1_000151 - - - rs11803533 Germline - - - 0 - Andreas Laner
-/- 2i c.130-5T>C r.(?) p.(?) - - benign g.229568632A>G g.229432885A>G - - ACTA1_000151 - PubMed: Graziano et al, 2004 - rs11803533 Germline - - - 0 - Kristen Nowak
-/? 2i c.130-5T>C r.(spl?) p.(=) - ACMG benign g.229568632A>G g.229432885A>G - - ACTA1_000151 from website {DBsub-Emory} - - rs11803533 Unknown - - - 0 - Madhuri Hegde
-/. - c.130-5T>C r.spl? p.? - - benign g.229568632A>G g.229432885A>G ACTA1(NM_001100.3):c.130-5T>C - ACTA1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.130-5T>C r.spl? p.? - - benign g.229568632A>G g.229432885A>G ACTA1(NM_001100.3):c.130-5T>C - ACTA1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 3 c.131G>T r.(?) p.(Gly44Val) GGC > GTC - pathogenic g.229568626C>A g.229432879C>A - - ACTA1_000012 - PubMed: Sparrow et al, 2003 - - Germline - - - 0 - Kristen Nowak
+/+ 3 c.133G>T r.(?) p.(Val45Phe) GTC > TTC - pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 - PubMed: Sparrow et al, 2003 - - De novo - - - 0 - Kristen Nowak
+?/+? 3 c.133G>T r.(?) p.(Val45Phe) - - likely pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 from website {DBsub-Emory} - - - Unknown - - - 0 - Madhuri Hegde
+/. - c.133G>T r.(?) p.(Val45Phe) - - pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 3 c.137T>C r.(?) p.(Met46Thr) ATG > ACG - pathogenic g.229568620A>G g.229432873A>G - - ACTA1_000014 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
?/+? 3 c.142G>A r.(?) p.(Gly48Ser) GGT > AGT - VUS g.229568615C>T g.229432868C>T - - ACTA1_000221 - - - - Germline - - - 0 - Tom Winder
+/+ 3 c.142G>C r.(?) p.(Gly48Arg) GGT > CGT - pathogenic g.229568615C>G g.229432868C>G - - ACTA1_000239 - - - - De novo - - - 0 - Wolfram Kress
+/+ 3 c.142G>T r.(?) p.(Gly48Cys) GGT > TGT - pathogenic g.229568615C>A g.229432868C>A - - ACTA1_000162 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 3 c.143G>A r.(?) p.(Gly48Asp) GGT > GAT - pathogenic g.229568614C>T g.229432867C>T - - ACTA1_000015 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 3 c.143G>A r.(?) p.(Gly48Asp) GGT>GAT - pathogenic g.229568614C>T g.229432867C>T - - ACTA1_000015 - PubMed: Stehlikova et al, 2017 - - De novo - - - 0 - Kristen Nowak
+/+? 3 c.143G>C r.(?) p.(Gly48Ala) GGT >GCT - likely pathogenic g.229568614C>G g.229432867C>G - - ACTA1_000308 - PubMed: Tadokoro et al 2018 - - De novo - - - 0 - Kristen Nowak
+/+ 3 c.145A>G r.(?) p.(Met49Val) ATG > GTG - pathogenic g.229568612T>C g.229432865T>C - - ACTA1_000190 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
+/? 3 c.145A>G r.(?) p.(Met49Val) ATG > GTG - pathogenic g.229568612T>C g.229432865T>C - - ACTA1_000190 original report erroneous, change confirmed by authors; TPM2:c.=; de novo, in patient PubMed: Hung 2010 - - De novo - - - 0 - Johan den Dunnen
+/+ 3 c.148G>A r.(?) p.(Gly50Ser) GGT>AGT - pathogenic g.229568609C>T - - - ACTA1_000323 - PubMed: Garibaldi 2021 - - Germline yes - - 0 - Nigel Laing
+/+? 3 c.148G>T r.(?) p.(Gly50Cys) GGT >TGT - pathogenic g.229568609C>A g.229432862C>A Not published - ACTA1_000260 Variant described in email from Dr Hayashi 8.10.13 - - - Germline - - - 0 - Kristen Nowak
+/+ 3 c.149G>A r.(?) p.(Gly50Asp) GGT>GAT - pathogenic g.229568608C>T - - - ACTA1_000322 - PubMed: Liewluck 2019 - - Germline yes - - 0 - Nigel Laing
+/+ 3 c.169G>C r.(?) p.(Gly57Arg) GGC > CGC - pathogenic g.229568588C>G g.229432841C>G - - ACTA1_000016 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
+/+ 3 c.169G>C r.(?) p.(Gly57Arg) GGC > CGC - pathogenic g.229568588C>G g.229432841C>G - - ACTA1_000016 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+?/+? 3 c.172G>A r.(?) p.(Asp58Asn) GAC > AAC - likely pathogenic g.229568585C>T g.229432838C>T - - ACTA1_000227 - - - - Germline - - - 0 - Tom Winder
+?/+? 3 c.175G>A r.(?) p.Glu59Lys GAG > AAG - likely pathogenic g.229568582C>T g.229432835C>T - - ACTA1_000261 Email from Francesco Muntoni 8.7.13 - - - De novo - - - 0 - Kristen Nowak
+/+ 3 c.197T>A r.(?) p.(Ile66Asn) ATC > AAC - pathogenic g.229568560A>T g.229432813A>T - - ACTA1_000212 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - 0 - Alan Beggs
+/+ 3 c.197T>G r.(?) p.(Ile66Ser) ATC > AGC - pathogenic g.229568560A>C g.229432813A>C - - ACTA1_000163 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 3 c.203C>A r.(?) p.(Thr68Asn) ACC > AAC - pathogenic g.229568554G>T g.229432807G>T - - ACTA1_000208 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
+/+ 3 c.203C>T r.(?) p.(Thr68Ile) ACC > ATC - pathogenic g.229568554G>A g.229432807G>A - - ACTA1_000018 - PubMed: Ilkovski et al, 2004 - - De novo - - - 0 - Kristen Nowak
+/+? 3 c.203C>T r.(?) p.(Thr68Ile) ACC > ATC - pathogenic g.229568554G>A g.229432807G>A - - ACTA1_000018 - - - - Unknown - - - 0 - Tom Winder
+/+ 3 c.209A>G r.(?) p.(Lys70Arg) AAG > AGG - pathogenic g.229568548T>C g.229432801T>C - - ACTA1_000186 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
+/+ 3 c.209A>G r.(?) p.(Lys70Arg) AAG > AGG - pathogenic g.229568548T>C g.229432801T>C - - ACTA1_000186 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
?/? 3 c.210G>A r.210g>a p.= AAG > AAA - VUS g.229568547C>T g.229432800C>T - - ACTA1_000144 RNA muscle normal; pathogenicity unclear; PubMed: Graziano et al, 2004 - - De novo - - - 0 - Kristen Nowak
+?/+? 3 c.215C>G r.(?) p.(Pro72Arg) CCT > CGT - likely pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - unpublished - - Germline - - - 0 - Kristen Nowak
+/+ 3 c.215C>G r.(?) p.(Pro72Arg) CCT > CGT - pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - - - - De novo - - - 0 - Tom Winder
+/+ 3 c.215C>G r.(?) p.(Pro72Arg) CCT>CGT - pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - PubMed: Chae et al, 2015 - - De novo - - - 0 - Kristen Nowak
+/+ 3 c.217A>G r.(?) p.(Ile73Val) ATC > GTC - pathogenic g.229568540T>C g.229432793T>C - - ACTA1_000164 - PubMed: Laing et al, 2009 - - Germline - - - 0 - Kristen Nowak
+/+ 3 c.217A>T r.(?) p.(Ile73Phe) ATC > TTC - pathogenic g.229568540T>A g.229432793T>A - - ACTA1_000019 - PubMed: Laing et al, 2009 - - De novo - - - 0 - Kristen Nowak
+/+ 3 c.220G>A r.(?) p.(Glu74Lys) GAG > AAG - pathogenic g.229568537C>T g.229432790C>T - - ACTA1_000020 - PubMed: Ilkovski et al, 2004 - - De novo - - - 0 - Kristen Nowak
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For conveniance it has been combined with other muscle-related gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).