Full data view for gene ACTA1

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.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Codon change     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-66C>T r.(=) p.(=) - Parent #1 - benign g.229569804G>A g.229434057G>A - - ACTA1_000271 - - - rs78588865 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-66C>T r.(?) p.(=) - Unknown - benign g.229569804G>A g.229434057G>A - - ACTA1_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 1 c.-66_-65delinsTC r.(?) p.(=) - Unknown - benign g.229569803_229569804delinsGA g.229434056_229434057delinsGA - - ACTA1_000200 rs605428; rs605430 - - - Germline - - - 0 - DNA SEQ - - - - - - - - - - - 0 - - 1 Kristen Nowak
-/. - c.-65T>C r.(=) p.(=) - Parent #1 - benign g.229569803A>G g.229434056A>G - - ACTA1_000270 - - - rs605430 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-65T>C r.(?) p.(=) - Unknown - benign g.229569803A>G g.229434056A>G - - ACTA1_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-12-61del r.(=) p.(=) - Parent #1 - VUS g.229568942del g.229433195del - - ACTA1_000279 - - - rs6667660 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/+ _1_7_ c.(?_-12)_(*254_?)del r.0? p.0? - Paternal (confirmed) - 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 - DNA PCRq - - NEM - PubMed: Friedman et al 2014 - F no (United States) - - 0 - - 1 Kristen Nowak
-/- 3i c.454+30_454+59CCCGCC[3_5] r.(=) p.(=) - Unknown - 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 - DNA SEQ - - - - PubMed: Nowak et al, 1999, PubMed: Graziano et al, 2004 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.7G>T r.(?) p.(Asp3Tyr) GAC > TAC Parent #1 - pathogenic g.229568856C>A g.229433109C>A D1Y - ACTA1_000001 - PubMed: Kaindl et al, 2004, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - MYOP - PubMed: Kaindl et al, 2004, OMIM:var0009 11 affected members in 4 generations from 8 separate sibship - - Germany - - 0 - - 11 Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - CFTD - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - ? - PubMed: Laing et al, 2009 muscle biopsy type 1 fibre predominance is only pathological feature - - - - - 0 - - 1 Kristen Nowak
+/? 2 c.16G>A r.(?) p.(Glu6Lys) - Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - NEM-3 - - - F - United States Caucasian - 0 - - 1 Tom Winder
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG>AAG Unknown - pathogenic g.229568847C>T g.229433100C>T - - ACTA1_000002 - - - - De novo - - - 0 - DNA ? - - MYOP - - Patient of Anna Sarkozy, London. Patient described as having congenital myopathy with no nemaline rods seen ? - United Kingdom (Great Britain) - - 0 - - 1 Kristen Nowak
?/? 2 c.24C>A r.(?) p.(=) - Unknown - VUS g.229568839G>T g.229433092G>T - - ACTA1_000235 from website {DBsub-Emory} - - - Unknown - - - 0 - DNA SEQ - - ? - - - - - (United States) - - 0 - - 1 Madhuri Hegde
+/+ 2 c.37G>A r.(?) p.(Asp13Asn) GAC > AAC Unknown - pathogenic g.229568826C>T g.229433079C>T - - ACTA1_000160 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.44G>A r.(?) p.(Gly15Asp) GGC > GAC Unknown - pathogenic g.229568819C>T g.229433072C>T - - ACTA1_000225 - PubMed: Stenzel et al 2010 - - De novo - - - 0 - DNA SEQ - - MYOP - PubMed: Stenzel et al 2010 - F - - - - 0 - - 1 Kristen Nowak
+/. - c.44G>A r.(?) p.(Gly15Asp) - Unknown - pathogenic g.229568819C>T g.229433072C>T - - ACTA1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC Parent #1 - pathogenic g.229568814C>G g.229433067C>G G15R - ACTA1_000003 - PubMed: Nowak et al, 1999, OMIM:var0003 - - De novo - - - 0 - DNA SEQ - - MYOP - PubMed: Goebel et al, 1997; H. Goebel, Germany; J. Anderson (England) - - - (Germany) - - 0 - - 1 Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC Unknown - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Goebel et al, 2006, PubMed: Goebel et al, 2004 - - Germline - - - 0 - DNA SEQ - - MYOP - PubMed: Goebel et al, 2006, PubMed: Goebel et al, 2004 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC Unknown - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC Unknown - pathogenic g.229568814C>G g.229433067C>G - - ACTA1_000003 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.60A>C r.(?) p.(Lys20Asn) AAA>AAC Unknown - pathogenic g.229568803T>G g.229433056T>G - - ACTA1_000295 - - - - De novo - - - 0 - DNA SEQ-NG-I - gene panel of 316 known muscle disease genes NEM-3 - - - M ? Australia - - 0 - - 1 Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC Unknown - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Sparrow et al, 2003 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Sparrow et al, 2003 - - - (France) - - 0 - - 1 Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC Unknown - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (Japan) - - 0 - - 1 Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC Unknown - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (Japan) - - 0 - - 1 Kristen Nowak
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC Unknown - pathogenic g.229568784C>T g.229433037C>T - - ACTA1_000004 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+?/? 2 c.83C>A r.(?) p.(Ala28Asp) GCC>GAC Unknown - 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 - DNA SEQ - - MYOP - - - - ? (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+?/+? 2 c.89G>A r.(?) p.(Arg30Lys) AGG > AAG Paternal (confirmed) - likely pathogenic g.229568774C>T g.229433027C>T - - ACTA1_000005 ?unaffected father carries the same mutation PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - 1 Alan Beggs
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (Germany) - - 0 - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (Belgium) - - 0 - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG Unknown - pathogenic g.229568754C>G g.229433007C>G - - ACTA1_000006 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.109G>T r.(?) p.(Val37Leu) GTG > TTG Unknown - 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 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+/+ 2 c.109G>T r.(?) p.(Val37Leu) GTG > TTG Unknown - pathogenic g.229568754C>A g.229433007C>A - - ACTA1_000202 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - M - Australia - - 0 - - 1 Kristen Nowak
+/+ 2 c.110T>C r.(?) p.(Val37Ala) GTG > GCG Unknown - pathogenic g.229568753A>G g.229433006A>G - - ACTA1_000161 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.112G>A r.(?) p.(Gly38Ser) GGC > AGC Unknown - pathogenic g.229568751C>T g.229433004C>T - - ACTA1_000246 - - - - De novo - - - 0 - DNA SEQ - - NEM - - - F - (Australia) - - 0 - - 1 Kristen Nowak
+/+ 2 c.113G>C r.(?) p.(Gly38Ala) GGC > GCC Parent #1 - pathogenic g.229568750C>G g.229433003C>G - - ACTA1_000007 parents not tested PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (Netherlands) - - 0 - - 1 Kristen Nowak
?/. - c.113G>C r.(?) p.(Gly38Ala) - Unknown - VUS g.229568750C>G g.229433003C>G - - ACTA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC Unknown - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - 1 Alan Beggs
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC Parent #1 - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC Unknown - pathogenic g.229568744G>A g.229432997G>A - - ACTA1_000008 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 2 c.121C>T r.(?) p.(Arg41*) CGA > TGA Both (homozygous) - 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 - DNA SEQ - - NEM-3 - PubMed: Nowak et al, 2007, PubMed: Sparrow et al, 2003 - - - (France) - - 0 - - 1 Kristen Nowak
+?/+? 2 c.122G>A r.(?) p.(Arg41Gln) CGA > CAA Unknown - likely pathogenic g.229568741C>T g.229432994C>T - - ACTA1_000229 - - - - De novo - - - 0 - DNA PCR, SEQ - - NEM - - - F - United States - - 0 - - 1 Tom Winder
+?/. - c.122G>T r.(?) p.(Arg41Leu) - Unknown - likely pathogenic g.229568741C>A - - - ACTA1_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC Unknown - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003 - - - (United States) - - 0 - - 1 Alan Beggs
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC Unknown - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Sparrow et al, 2003 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Sparrow et al, 2003 - - - (Finland) - - 0 - - 1 Kristen Nowak
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC Unknown - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - F - (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC Unknown - pathogenic g.229568739G>A g.229432992G>A - - ACTA1_000010 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - MYOP - PubMed: Laing et al, 2009 - M - (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG Unknown - 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 - DNA SEQ - - NEM-3 - PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Graziano et al, 2004 monozygotic twins - - (Italy) - - 0 - - 1 Kristen Nowak
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG Parent #1 - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 parents not tested - - (United States) - - 0 - - 2 Alan Beggs
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG Unknown - pathogenic g.229568735T>C g.229432988T>C - - ACTA1_000011 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
?/? 2i c.129+31C>A r.(?) p.(=) - Unknown - benign g.229568703G>T g.229432956G>T - - ACTA1_000236 from website {DBsub-Emory} - - - Unknown - - - 0 - DNA SEQ - - ? - - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.130-10G>C r.(=) p.(=) - Parent #1 - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 - - - rs4127148 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/- 2i c.130-10G>C r.(?) p.(?) - Unknown - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 - PubMed: Graziano et al, 2004 - rs41271481 Germline - - - 0 - DNA SEQ - - - - PubMed: Graziano et al, 2004 - - - - - - 0 - - 1 Kristen Nowak
-/? 2i c.130-10G>C r.(?) p.(=) - Unknown - benign g.229568637C>G g.229432890C>G - - ACTA1_000150 from website {DBsub-Emory} - - rs41271481 Unknown - - - 0 - DNA SEQ - - ? - - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.130-10G>C r.(=) p.(=) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.130-10G>C r.(=) p.(=) - Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.130-5T>C r.spl? p.(=) - Parent #1 - benign g.229568632A>G g.229432885A>G - - ACTA1_000151 - - - rs11803533 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/- 2i c.130-5T>C r.(?) p.(?) - Unknown - benign g.229568632A>G g.229432885A>G - - ACTA1_000151 - PubMed: Graziano et al, 2004 - rs11803533 Germline - - - 0 - DNA SEQ - - - - PubMed: Graziano et al, 2004 - - - - - - 0 - - 1 Kristen Nowak
-/? 2i c.130-5T>C r.(spl?) p.(=) - Unknown ACMG benign g.229568632A>G g.229432885A>G - - ACTA1_000151 from website {DBsub-Emory} - - rs11803533 Unknown - - - 0 - DNA SEQ - - ? - - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.130-5T>C r.spl? p.? - Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.130-5T>C r.spl? p.? - Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.131G>T r.(?) p.(Gly44Val) GGC > GTC Parent #1 - pathogenic g.229568626C>A g.229432879C>A - - ACTA1_000012 - PubMed: Sparrow et al, 2003 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Sparrow et al, 2003 - - - (Belgium) - - 0 - - 1 Kristen Nowak
+/+ 3 c.133G>T r.(?) p.(Val45Phe) GTC > TTC Unknown - pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 - PubMed: Sparrow et al, 2003 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Sparrow et al, 2003 - - - (Denmark) - - 0 - - 1 Kristen Nowak
+?/+? 3 c.133G>T r.(?) p.(Val45Phe) - Unknown - likely pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 from website {DBsub-Emory} - - - Unknown - - - 0 - DNA SEQ - - ? - - - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.133G>T r.(?) p.(Val45Phe) - Unknown - pathogenic g.229568624C>A g.229432877C>A - - ACTA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.137T>C r.(?) p.(Met46Thr) ATG > ACG Unknown - pathogenic g.229568620A>G g.229432873A>G - - ACTA1_000014 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (France) - - 0 - - 1 Kristen Nowak
?/+? 3 c.142G>A r.(?) p.(Gly48Ser) GGT > AGT Unknown - VUS g.229568615C>T g.229432868C>T - - ACTA1_000221 - - - - Germline - - - 0 - DNA SEQ - - CFTD - - - - - United States - - 0 - - 1 Tom Winder
+/+ 3 c.142G>C r.(?) p.(Gly48Arg) GGT > CGT Unknown - pathogenic g.229568615C>G g.229432868C>G - - ACTA1_000239 - - - - De novo - - - 0 - DNA SEQ - - NEM - - - F no Germany - - 0 - - 1 Wolfram Kress
+/+ 3 c.142G>T r.(?) p.(Gly48Cys) GGT > TGT Unknown - pathogenic g.229568615C>A g.229432868C>A - - ACTA1_000162 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 3 c.143G>A r.(?) p.(Gly48Asp) GGT > GAT Unknown - pathogenic g.229568614C>T g.229432867C>T - - ACTA1_000015 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - CFTD - PubMed: Laing et al, 2009 - - - (Australia) - - 0 - - 1 Kristen Nowak
+/+ 3 c.143G>A r.(?) p.(Gly48Asp) GGT>GAT Unknown - pathogenic g.229568614C>T g.229432867C>T - - ACTA1_000015 - PubMed: Stehlikova et al, 2017 - - De novo - - - 0 - DNA SEQ-NG-I - Targeted panel of 42 known disease genes MYOP Stehlikova et al, 2017 PubMed: Stehlikova et al, 2017 Patient described as having a congenital myopathy and a de novo mutation in ACTA1 F - Czech Republic - - 0 - - 1 Kristen Nowak
+/+? 3 c.143G>C r.(?) p.(Gly48Ala) GGT >GCT Unknown - likely pathogenic g.229568614C>G g.229432867C>G - - ACTA1_000308 - PubMed: Tadokoro et al 2018 - - De novo - - - 0 - DNA SEQ - - CFTD - {PMID30195123: Tadokoro et al 2018} Patient diagnosed with congenital fibre type disproportion (CFTD), and dilated cardiomyopathy, no nemaline bodies seen, first seen at age 6. M ? Japan - - 0 - - 1 Kristen Nowak
+/+ 3 c.145A>G r.(?) p.(Met49Val) ATG > GTG Unknown - pathogenic g.229568612T>C g.229432865T>C - - ACTA1_000190 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/? 3 c.145A>G r.(?) p.(Met49Val) ATG > GTG Unknown - 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 - DNA SEQ - - MYOP - PubMed: Hung 2010 father Trinidad, mother United Kingdom (Scotland) M - Canada - - 0 - - 1 Johan den Dunnen
+/+ 3 c.148G>A r.(?) p.(Gly50Ser) GGT>AGT Paternal (inferred) - pathogenic g.229568609C>T - - - ACTA1_000323 - PubMed: Garibaldi 2021 - - Germline yes - - 0 - DNA SEQ-NG - targeted congenital myopathy panel 95 genes NEM-3 - PubMed: Garibaldi 2021 3 generation family, 6 affecteds (3F, 3M), dominantly inherited. Nemaline bodies, unstructured cores. Proband female F - Italy - - 0 - - 6 Nigel Laing
+/+? 3 c.148G>T r.(?) p.(Gly50Cys) GGT >TGT Unknown - pathogenic g.229568609C>A g.229432862C>A Not published - ACTA1_000260 Variant described in email from Dr Hayashi 8.10.13 - - - Germline - - - 0 - DNA PCR - - NEM - - Hayashi et al, Mutation screening of a large cohort of nemaline myopathy. Neuromuscular Disorders 23: 784 (2013) - - - - - 0 - - 1 Kristen Nowak
+/+ 3 c.149G>A r.(?) p.(Gly50Asp) GGT>GAT Paternal (confirmed) - pathogenic g.229568608C>T - - - ACTA1_000322 - PubMed: Liewluck 2019 - - Germline yes - - 0 - DNA SEQ-NG - - NEM-3 Liewluck 2019 Proband and father PubMed: Liewluck 2019 2 generation family, 2 affecteds (1M, 1F). myopathy with prominent finger flexor weakness, rimmed vacuoles and nemaline bodies in father F - (United States) - - 0 - - 2 Nigel Laing
+/+ 3 c.169G>C r.(?) p.(Gly57Arg) GGC > CGC Unknown - pathogenic g.229568588C>G g.229432841C>G - - ACTA1_000016 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - 1 Kristen Nowak
+/+ 3 c.169G>C r.(?) p.(Gly57Arg) GGC > CGC Unknown - pathogenic g.229568588C>G g.229432841C>G - - ACTA1_000016 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+?/+? 3 c.172G>A r.(?) p.(Asp58Asn) GAC > AAC Unknown - likely pathogenic g.229568585C>T g.229432838C>T - - ACTA1_000227 - - - - Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - M - United States Caucasian - 0 - - 1 Tom Winder
+?/+? 3 c.175G>A r.(?) p.Glu59Lys GAG > AAG Unknown - likely pathogenic g.229568582C>T g.229432835C>T - - ACTA1_000261 Email from Francesco Muntoni 8.7.13 - - - De novo - - - 0 - DNA PCR - - NEM - - - - - (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+/+ 3 c.197T>A r.(?) p.(Ile66Asn) ATC > AAC Unknown - pathogenic g.229568560A>T g.229432813A>T - - ACTA1_000212 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - 2 Alan Beggs
+/+ 3 c.197T>G r.(?) p.(Ile66Ser) ATC > AGC Unknown - pathogenic g.229568560A>C g.229432813A>C - - ACTA1_000163 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 3 c.203C>A r.(?) p.(Thr68Asn) ACC > AAC Unknown - pathogenic g.229568554G>T g.229432807G>T - - ACTA1_000208 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 3 c.203C>T r.(?) p.(Thr68Ile) ACC > ATC Unknown - pathogenic g.229568554G>A g.229432807G>A - - ACTA1_000018 - PubMed: Ilkovski et al, 2004 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Ilkovski et al, 2004 - - - (Australia) - - 0 - - 1 Kristen Nowak
+/+? 3 c.203C>T r.(?) p.(Thr68Ile) ACC > ATC Unknown - pathogenic g.229568554G>A g.229432807G>A - - ACTA1_000018 - - - - Unknown - - - 0 - DNA PCR, SEQ - - NEM - - - - - United States African American - 0 - - 1 Tom Winder
+/+ 3 c.209A>G r.(?) p.(Lys70Arg) AAG > AGG Unknown - pathogenic g.229568548T>C g.229432801T>C - - ACTA1_000186 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 3 c.209A>G r.(?) p.(Lys70Arg) AAG > AGG Unknown - pathogenic g.229568548T>C g.229432801T>C - - ACTA1_000186 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
?/? 3 c.210G>A r.210g>a p.= AAG > AAA Parent #1 - VUS g.229568547C>T g.229432800C>T - - ACTA1_000144 RNA muscle normal; pathogenicity unclear; PubMed: Graziano et al, 2004 - - De novo - - - 0 - DNA, RNA RT-PCR, SEQ - - NEM-3 - PubMed: Graziano et al, 2004 - - - (Italy) - - 0 - - 1 Kristen Nowak
+?/+? 3 c.215C>G r.(?) p.(Pro72Arg) CCT > CGT Unknown - likely pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - unpublished - - Germline - - - 0 - DNA SEQ - - NEM-3 - unpublished - - - - - - 0 - - 1 Kristen Nowak
+/+ 3 c.215C>G r.(?) p.(Pro72Arg) CCT > CGT Unknown - pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - - - - De novo - - - 0 - DNA PCR, SEQ - - NEM - - - F - United States Caucasian - 0 - - 1 Tom Winder
+/+ 3 c.215C>G r.(?) p.(Pro72Arg) CCT>CGT Unknown - pathogenic g.229568542G>C g.229432795G>C - - ACTA1_000216 - PubMed: Chae et al, 2015 - - De novo - - - 0 - DNA SEQ-NG-I - Screened a panel of 579 genes NEM-3 Chae et al 2015 Case 18 PubMed: Chae et al, 2015 Diagnosed with nemaline myopathy. Floppy infant. Myopathic face with high arched palate. CK=130 F ? Korea - - 0 - - 1 Kristen Nowak
+/+ 3 c.217A>G r.(?) p.(Ile73Val) ATC > GTC Unknown - pathogenic g.229568540T>C g.229432793T>C - - ACTA1_000164 - PubMed: Laing et al, 2009 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing et al, 2009 - - - - - - 0 - - 1 Kristen Nowak
+/+ 3 c.217A>T r.(?) p.(Ile73Phe) ATC > TTC Unknown - pathogenic g.229568540T>A g.229432793T>A - - ACTA1_000019 - PubMed: Laing et al, 2009 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - 1 Kristen Nowak
+/+ 3 c.220G>A r.(?) p.(Glu74Lys) GAG > AAG Unknown - pathogenic g.229568537C>T g.229432790C>T - - ACTA1_000020 - PubMed: Ilkovski et al, 2004 - - De novo - - - 0 - DNA SEQ - - NEM-3 - PubMed: Ilkovski et al, 2004 - - - (Australia) - - 0 - - 1 Kristen Nowak
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

For conveniance it has been combined with other muscle-related gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).