Unique 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.

289 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
-/. 2 - c.-66C>T r.(=), r.(?) p.(=) - - benign g.229569804G>A g.229434057G>A - - ACTA1_000271 VKGL data sharing initiative Nederland - - rs78588865 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen
-/- 1 1 c.-66_-65delinsTC r.(?) p.(=) - - benign g.229569803_229569804delinsGA g.229434056_229434057delinsGA - - ACTA1_000200 rs605428; rs605430 - - - Germline - - - - - Kristen Nowak
-/. 2 - c.-65T>C r.(=), r.(?) p.(=) - - benign g.229569803A>G g.229434056A>G - - ACTA1_000270 VKGL data sharing initiative Nederland - - rs605430 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen
?/. 1 - c.-12-61del r.(=) p.(=) - - VUS g.229568942del g.229433195del - - ACTA1_000279 - - - rs6667660 Germline - - - - - Andreas Laner
+/+ 1 _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 - - - - - Kristen Nowak
-/- 1 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 - - - - - Kristen Nowak
+/+ 1 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 - - - - - Kristen Nowak
+/+, +/? 5 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG, GAG>AAG - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - De novo, Germline - - - - - Tom Winder, Kristen Nowak
?/? 1 2 c.24C>A r.(?) p.(=) - - VUS g.229568839G>T g.229433092G>T - - ACTA1_000235 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
+/+ 1 2 c.37G>A r.(?) p.(Asp13Asn) GAC > AAC - pathogenic g.229568826C>T g.229433079C>T - - ACTA1_000160 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+, +/. 2 2 c.44G>A r.(?) p.(Gly15Asp) GGC > GAC - pathogenic g.229568819C>T g.229433072C>T - - ACTA1_000225 VKGL data sharing initiative Nederland PubMed: Stenzel et al 2010 - - CLASSIFICATION record, De novo - - - - - Kristen Nowak, VKGL-NL_Nijmegen
+/+ 4 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC - pathogenic g.229568814C>G g.229433067C>G G15R - ACTA1_000003 - PubMed: Goebel et al, 2006, PubMed: Goebel et al, 2004, PubMed: Laing et al, 2009, 1 more item - - De novo, Germline - - - - - Kristen Nowak
+/+ 1 2 c.60A>C r.(?) p.(Lys20Asn) AAA>AAC - pathogenic g.229568803T>G g.229433056T>G - - ACTA1_000295 - - - - De novo - - - - - Kristen Nowak
+/+ 4 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009, PubMed: Sparrow et al, 2003 - - De novo, Germline - - - - - Kristen Nowak
+?/? 1 2 c.83C>A r.(?) p.(Ala28Asp) GCC>GAC - likely pathogenic g.229568780G>T g.229433033G>T - - ACTA1_000266 1 more item - - - Unknown - - - - - Kristen Nowak
+?/+? 1 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 - - - - - Kristen Nowak
+/+ 7 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo, Germline - - - - - Alan Beggs, Kristen Nowak
+/+ 2 2 c.109G>T r.(?) p.(Val37Leu) GTG > TTG - pathogenic g.229568754C>A g.229433007C>A - - ACTA1_000202 1 more item PubMed: Laing et al, 2009 - - De novo, Germline - - - - - Kristen Nowak
+/+ 1 2 c.110T>C r.(?) p.(Val37Ala) GTG > GCG - pathogenic g.229568753A>G g.229433006A>G - - ACTA1_000161 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 1 2 c.112G>A r.(?) p.(Gly38Ser) GGC > AGC - pathogenic g.229568751C>T g.229433004C>T - - ACTA1_000246 - - - - De novo - - - - - Kristen Nowak
+/+, ?/. 2 2 c.113G>C r.(?) p.(Gly38Ala) GGC > GCC - pathogenic, VUS g.229568750C>G g.229433003C>G - - ACTA1_000007 parents not tested, VKGL data sharing initiative Nederland PubMed: Laing et al, 2009 - - CLASSIFICATION record, Germline - - - - - Kristen Nowak, VKGL-NL_Nijmegen
+/+ 3 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Laing et al, 2009, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo, Germline - - - - - Alan Beggs, Kristen Nowak
+/+ 1 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 - - - - - Kristen Nowak
+?/+? 1 2 c.122G>A r.(?) p.(Arg41Gln) CGA > CAA - likely pathogenic g.229568741C>T g.229432994C>T - - ACTA1_000229 - - - - De novo - - - - - Tom Winder
+?/. 1 - c.122G>T r.(?) p.(Arg41Leu) - - likely pathogenic g.229568741C>A - - - ACTA1_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 4 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Laing et al, 2009, PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, 1 more item - - De novo, Germline - - - - - Alan Beggs, Kristen Nowak
+/+ 3 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Laing et al, 2009, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004, 1 more item - - De novo, Germline - - - - - Alan Beggs, Kristen Nowak
?/? 1 2i c.129+31C>A r.(?) p.(=) - - benign g.229568703G>T g.229432956G>T - - ACTA1_000236 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
-/-, -/., -/? 5 2i c.130-10G>C r.(=), r.(?) p.(=), p.(?) - - benign g.229568637C>G g.229432890C>G ACTA1(NM_001100.3):c.130-10G>C - ACTA1_000150 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Graziano et al, 2004 - rs4127148, rs41271481 CLASSIFICATION record, Germline, Unknown - - - - - Madhuri Hegde, Kristen Nowak, Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/-, -/., -/? 5 2i c.130-5T>C r.(?), r.(spl?), r.spl? p.(=), p.(?), p.? - ACMG benign g.229568632A>G g.229432885A>G ACTA1(NM_001100.3):c.130-5T>C - ACTA1_000151 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Graziano et al, 2004 - rs11803533 CLASSIFICATION record, Germline, Unknown - - - - - Madhuri Hegde, Kristen Nowak, Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+ 1 3 c.131G>T r.(?) p.(Gly44Val) GGC > GTC - pathogenic g.229568626C>A g.229432879C>A - - ACTA1_000012 - PubMed: Sparrow et al, 2003 - - Germline - - - - - Kristen Nowak
+/+, +/., +?/+? 3 3 c.133G>T r.(?) p.(Val45Phe) GTC > TTC - likely pathogenic, pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Sparrow et al, 2003 - - CLASSIFICATION record, De novo, Unknown - - - - - Madhuri Hegde, Kristen Nowak, VKGL-NL_Nijmegen
+/+ 1 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 - - - - - Kristen Nowak
?/+? 1 3 c.142G>A r.(?) p.(Gly48Ser) GGT > AGT - VUS g.229568615C>T g.229432868C>T - - ACTA1_000221 - - - - Germline - - - - - Tom Winder
+/+ 1 3 c.142G>C r.(?) p.(Gly48Arg) GGT > CGT - pathogenic g.229568615C>G g.229432868C>G - - ACTA1_000239 - - - - De novo - - - - - Wolfram Kress
+/+ 1 3 c.142G>T r.(?) p.(Gly48Cys) GGT > TGT - pathogenic g.229568615C>A g.229432868C>A - - ACTA1_000162 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 2 3 c.143G>A r.(?) p.(Gly48Asp) GGT > GAT, GGT>GAT - pathogenic g.229568614C>T g.229432867C>T - - ACTA1_000015 - PubMed: Laing et al, 2009, PubMed: Stehlikova et al, 2017 - - De novo, Germline - - - - - Kristen Nowak
+/+? 1 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 - - - - - Kristen Nowak
+/+, +/? 2 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, PubMed: Laing et al, 2009 - - De novo - - - - - Johan den Dunnen, Kristen Nowak
+/+ 1 3 c.148G>A r.(?) p.(Gly50Ser) GGT>AGT - pathogenic g.229568609C>T - - - ACTA1_000323 - PubMed: Garibaldi 2021 - - Germline yes - - - - Nigel Laing
+/+? 1 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 - - - - - Kristen Nowak
+/+ 1 3 c.149G>A r.(?) p.(Gly50Asp) GGT>GAT - pathogenic g.229568608C>T - - - ACTA1_000322 - PubMed: Liewluck 2019 - - Germline yes - - - - Nigel Laing
+/+ 2 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, Germline - - - - - Kristen Nowak
+?/+? 1 3 c.172G>A r.(?) p.(Asp58Asn) GAC > AAC - likely pathogenic g.229568585C>T g.229432838C>T - - ACTA1_000227 - - - - Germline - - - - - Tom Winder
+?/+? 1 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 - - - - - Kristen Nowak
+/+ 1 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 - - - - - Alan Beggs
+/+ 1 3 c.197T>G r.(?) p.(Ile66Ser) ATC > AGC - pathogenic g.229568560A>C g.229432813A>C - - ACTA1_000163 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 1 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 - - - - - Kristen Nowak
+/+, +/+? 2 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, Unknown - - - - - Tom Winder, Kristen Nowak
+/+ 2 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, Germline - - - - - Kristen Nowak
?/? 1 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 - - - - - Kristen Nowak
+/+, +?/+? 3 3 c.215C>G r.(?) p.(Pro72Arg) CCT > CGT, CCT>CGT - likely pathogenic, pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - unpublished, PubMed: Chae et al, 2015 - - De novo, Germline - - - - - Tom Winder, Kristen Nowak
+/+ 1 3 c.217A>G r.(?) p.(Ile73Val) ATC > GTC - pathogenic g.229568540T>C g.229432793T>C - - ACTA1_000164 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 1 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 - - - - - Kristen Nowak
+/+, +/. 2 3 c.220G>A r.(?) p.(Glu74Lys) GAG > AAG ACMG pathogenic, pathogenic (dominant) g.229568537C>T g.229432790C>T - - ACTA1_000020 - PubMed: Ilkovski et al, 2004, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Kristen Nowak, Gianina Ravenscroft
+/+ 1 3 c.222_223delinsTT r.(?) p.(Glu74_His75delinsAspTyr) GAGCAC > GATTAC - pathogenic g.229568534_229568535delinsAA g.229432787_229432788delinsAA - - ACTA1_000215 GAG CAC > GATTAC PubMed: Garcia-Angarita, et al 2009 - - De novo - - - - - Kristen Nowak
+/+ 1 3 c.223C>A r.(?) p.(His75Asn) CAC > AAC - pathogenic g.229568534G>T g.229432787G>T - - ACTA1_000165 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 1 3 c.224A>G r.(?) p.(His75Arg) CAC > CGC - pathogenic g.229568533T>C g.229432786T>C - - ACTA1_000157 - PubMed: Agrawal et al, 2004 - - Germline - - - - - Alan Beggs
+/+ 1 3 c.224A>T r.(?) p.(His75Leu) CAC > CTC - pathogenic g.229568533T>A g.229432786T>A - - ACTA1_000021 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - - - Alan Beggs
+?/. 1 - c.226G>C r.(?) p.(Gly76Arg) GGC>CGC - likely pathogenic g.229568531C>G - - - ACTA1_000319 - - - - Unknown - - - - - IMGAG
+/+ 1 3 c.227G>A r.(?) p.(Gly76Asp) GGC > GAC - pathogenic g.229568530C>T g.229432783C>T - - ACTA1_000022 - PubMed: Graziano et al, 2005 - - De novo - - - - - Kristen Nowak
+/+ 1 3 c.229A>C r.(?) p.(Ile77Leu) ATC > CTC - pathogenic g.229568528T>G g.229432781T>G - - ACTA1_000023 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - - - Alan Beggs
+/+ 1 3 c.230T>G r.(?) p.(Ile77Ser) ATC > AGC - pathogenic g.229568527A>C g.229432780A>C - - ACTA1_000024 - PubMed: Laing et al, 2009 - - De novo - - - - - Kristen Nowak
+/+ 2 3 c.235A>G r.(?) p.(Thr79Ala) ACC > GCC - pathogenic g.229568522T>C g.229432775T>C - - ACTA1_000025 - PubMed: Graziano et al, 2004, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo, Germline - - - - - Alan Beggs, Kristen Nowak
+?/. 1 - c.239A>C r.(?) p.(Asn80Thr) - - likely pathogenic g.229568518T>G - ACTA1(NM_001100.3):c.239A>C (p.N80T) - ACTA1_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+ 1 3 c.239A>G r.(?) p.(Asn80Ser) AAC > AGC - likely pathogenic g.229568518T>C g.229432771T>C - - ACTA1_000254 not in ExAc database (22.12.14) - - - De novo - - - - - Kristen Nowak
+/+, +/. 3 3 c.253G>A r.(?) p.(Glu85Lys) GAG > AAG - pathogenic g.229568504C>T g.229432757C>T - - ACTA1_000026 - publication in prep, PubMed: Agrawal et al, 2004, PubMed: Laing et al, 2009 - - De novo, Germline yes - - - - Alan Beggs, Kristen Nowak, Vilma-Lotta Lehtokari
+?/+? 1 3 c.275_277del r.(?) p.(Phe92del) - - likely pathogenic g.229568482_229568484del g.229432735_229432737del - - ACTA1_000231 deleted sequence = TCT - - - De novo - - - - - Wolfram Kress
+/+ 2 3 c.282C>A r.(?) p.(Asn94Lys) AAC>AAA - pathogenic g.229568475G>T g.229432728G>T - - ACTA1_000288 Muscle pathology shows cytoplasmic bodies, with no signs of nemaline rods. PubMed: Donkervoort et al, 2017 - - De novo, Unknown - - - - - Kristen Nowak
+/+, +/. 3 3 c.282C>G r.(?) p.(Asn94Lys) AAC > AAG - pathogenic g.229568475G>C g.229432728G>C - - ACTA1_000027 VKGL data sharing initiative Nederland PubMed: Laing et al, 2009 - - CLASSIFICATION record, De novo, Germline - - - - - Kristen Nowak, VKGL-NL_Nijmegen
?/+ 1 - c.283G>A r.(?) p.(Glu95Lys) GAG>AAG - likely pathogenic (dominant) g.229568474C>T g.229432727C>T - - ACTA1_000283 1 more item - - - Unknown - - - - - Kristen Nowak
+/+ 2 3 c.287T>C r.(?) p.(Leu96Pro) CTT > CCT - pathogenic g.229568470A>G g.229432723A>G Leu94Pro - ACTA1_000210 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, OMIM:var0001 - - Germline - - - - - Kristen Nowak
+?/+? 1 3 c.296C>G r.(?) p.(Ala99Gly) GCT>GGT - likely pathogenic g.229568461G>C g.229432714G>C - - ACTA1_000267 - - - - De novo - - - - - Kristen Nowak
+?/+? 1 3 c.327G>C r.(?) p.(Glu109Asp) GAG > GAC - likely pathogenic g.229568430C>G g.229432683C>G - - ACTA1_000029 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 4 3 c.338A>G r.(?) p.(Asn113Ser) AAT > AGT, AAT>AGT - pathogenic g.229568419T>C g.229432672T>C Asn111Ser - ACTA1_000030 This variant published as Asn111Ser PubMed: Ladha et al 2008, PubMed: Laing et al, 2009 - - Germline, Unknown - - - - - Kristen Nowak
?/. 1 - c.341C>T r.(?) p.(Pro114Leu) - - VUS g.229568416G>A g.229432669G>A - - ACTA1_000314 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
+/+ 1 3 c.343A>G r.(?) p.(Lys115Glu) AAG > GAG - pathogenic g.229568414T>C g.229432667T>C - - ACTA1_000166 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+, +/. 2 3 c.346G>A r.(?) p.(Ala116Thr) GCC > ACC - pathogenic g.229568411C>T g.229432664C>T - - ACTA1_000031 VKGL data sharing initiative Nederland PubMed: Sparrow et al, 2003 - - CLASSIFICATION record, Germline - - - - - Kristen Nowak, VKGL-NL_Nijmegen
+/+ 1 3 c.346G>T r.(?) p.(Ala116Ser) GCC > TCC - pathogenic g.229568411C>A g.229432664C>A - - ACTA1_000032 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 1 3 c.347C>T r.(?) p.(Ala116Val) GCC>GTC - pathogenic g.229568410G>A g.229432663G>A - - ACTA1_000289 - PubMed: Chae et al, 2015 - - De novo - - - - - Kristen Nowak
+/+ 2 3 c.350A>C r.(?) p.(Asn117Thr) AAC > ACC - pathogenic g.229568407T>G g.229432660T>G - - ACTA1_000034 - PubMed: Sparrow et al, 2003 - - Germline - - - - - Kristen Nowak
+/+, ?/+ 4 3 c.350A>G r.(?) p.(Asn117Ser) AAC > AGC, AAC>AGC - likely pathogenic, pathogenic g.229568407T>C g.229432660T>C N115S - ACTA1_000033 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, PubMed: Ilkovski et al, 2001, OMIM:var0002, 1 more item - - De novo, Germline yes - - - - Kristen Nowak
+/+ 1 3 c.353G>A r.(?) p.(Arg118His) CGC > CAC - pathogenic g.229568404C>T g.229432657C>T - - ACTA1_000035 - PubMed: Sparrow et al, 2003 - - De novo - - - - - Kristen Nowak
?/+? 1 3 c.360G>T r.(?) p.(Lys120Asn) AAG > AAT - likely pathogenic g.229568397C>A g.229432650C>A - - ACTA1_000219 - - - - De novo - - - - - Tom Winder
+?/. 1 - c.364A>C r.(?) p.(Thr122Pro) ACC>CCC ACMG likely pathogenic (dominant) g.229568393T>G g.229432646T>G - - ACTA1_000315 1 more item PMID: 19562689 for p.(Thr122Ser) - - De novo ? - - - - Andreas Laner
+/+ 1 3 c.365C>G r.(?) p.(Thr122Ser) ACC > AGC - pathogenic g.229568392G>C g.229432645G>C - - ACTA1_000036 - PubMed: Laing et al, 2009 - - De novo - - - - - Kristen Nowak
+/+ 1 3 c.393del r.(?) p.(Ala133Profs*59) GTG > GTC - pathogenic g.229568364del g.229432617del - - ACTA1_000037 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 2 3 c.400A>G r.(?) p.(Met134Val) ATG > GTG - pathogenic g.229568357T>C g.229432610T>C - - ACTA1_000038 - PubMed: Nowak et al, 1999, PubMed: Junglbuth et al, 2001, PubMed: Sparrow et al, 2003, 1 more item - - Germline - - - - - Kristen Nowak
+/+, +/? 2 3 c.402G>A r.(?) p.(Met134Ile) ATG > ATA - pathogenic g.229568355C>T g.229432608C>T - - ACTA1_000039 - PubMed: Laing et al, 2009 - - Germline - - - - - Tom Winder, Kristen Nowak
+/+ 1 3 c.407T>C r.(?) p.(Val136Ala) GTG > GCG - pathogenic g.229568350A>G g.229432603A>G - - ACTA1_000040 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - Germline - - - - - Alan Beggs
+/+ 1 3 c.413T>C r.(?) p.(Ile138Thr) ATC > ACC - pathogenic g.229568344A>G g.229432597A>G - - ACTA1_000042 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 2 3 c.414C>G r.(?) p.(Ile138Met) ATC > ATG - pathogenic g.229568343G>C g.229432596G>C I136M - ACTA1_000041 - PubMed: Laing et al, 2009, 1 more item - - Germline - - - - - Kristen Nowak
+/+ 1 3 c.417G>C r.(?) p.(Gln139His) CAG > CAC - pathogenic g.229568340C>G g.229432593C>G - - ACTA1_000043 - PubMed: Koy et al, 2007 - - De novo - - - - - Kristen Nowak
+/+ 1 3 c.418G>C r.(?) p.(Ala140Pro) GCC > CCC - pathogenic g.229568339C>G g.229432592C>G - - ACTA1_000044 Parents not tested PubMed: Sparrow et al, 2003 - - Germline/De novo (untested) - - - - - Kristen Nowak
+/+ 1 3 c.419C>A r.(?) p.(Ala140Asp) GCC > GAC - pathogenic g.229568338G>T g.229432591G>T - - ACTA1_000195 - PubMed: Laing et al, 2009 - - De novo - - - - - Kristen Nowak
+/+ 1 3 c.422T>C r.(?) p.(Val141Ala) GTG > GCG - pathogenic g.229568335A>G g.229432588A>G - - ACTA1_000045 - PubMed: Laing et al, 2009 - - De novo - - - - - Kristen Nowak
+/+ 1 3 c.425T>C r.(?) p.(Leu142Pro) CTG > CCG - pathogenic g.229568332A>G g.229432585A>G - - ACTA1_000046 - PubMed: Sparrow et al, 2003 - - Germline - - - - - Kristen Nowak
+/+ 2 3 c.430C>T r.(?) p.(Leu144Phe) CTC > TTC - pathogenic g.229568327G>A g.229432580G>A - - ACTA1_000197 - PubMed: Arai et al, 2009 PubMed: Laing et al, 2009, PubMed: Chou et al 2013 - - De novo - - - - - Kristen Nowak
+/+ 1 3 c.435C>G r.(?) p.(Tyr145*) TAC > TAG - pathogenic g.229568322G>C g.229432575G>C - - ACTA1_000184 - PubMed: Laing et al, 2009 - - Germline - - - - - Kristen Nowak
+/+ 2 3 c.436del r.(?) p.(Ala146Profs*46) - - pathogenic g.229568321del g.229432574del - - ACTA1_000047 - PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - Germline - - - - - Tom Winder, Alan Beggs
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For conveniance it has been combined with other muscle-related gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).