Full data view for gene DMD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

265 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Herczegfalvi 1999 - - Germline - - - - - DNA PCR - - MD - PubMed: Herczegfalvi 1999 analysis 159 BMD/DMD cases M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Onengut - - Germline - - - - - DNA PCRm, Southern - - MD - PubMed: Onengut analysis 146 BMD/DMD deletion cases M - Turkey - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Adachi 2002 - - Germline - - - - - DNA Southern - - BMD - PubMed: Adachi 2002 analysis 76 dystrophinopathy families M - Japan - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 de novo, in patient PubMed: Carsana - - De novo - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 inherited maternal grand mother PubMed: Carsana - - Germline - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Carsana - - Germline - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Basak 2006 - - Germline - - - - - DNA PCR - - BMD - PubMed: Basak 2006 analysis 70 BMD/DMD patients M - India - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Basak 2006 - - Germline - - - - - DNA PCR - - DMD - PubMed: Basak 2006 analysis 70 BMD/DMD patients M - India - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Florentin - - Germline - - - - - DNA PCRm - - BMD - PubMed: Florentin analysis 90 BMD/DMD cases M - Greece - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Florentin - - Germline - - - - - DNA PCRm, Southern - - BMD - PubMed: Florentin analysis 90 BMD/DMD cases M - Greece - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Singh - - Germline - - - - - DNA Southern - - BMD - PubMed: Singh analysis 121 BMD/DMD cases M - India North - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Singh - - Germline - - - - - DNA Southern - - DMD - PubMed: Singh analysis 121 BMD/DMD cases M - India North - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(?) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - Rocco, ICHG2001#P1497 - {DB:Santiago} - - Germline - - - - - DNA PCRm - - BMD - Rocco, ICHG2001#P1497 - {DB:Santiago} - M - Chile - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - Rocco, ICHG2001#P1497 - {DB:Santiago} - - Germline - - - - - DNA PCRm - - DMD - Rocco, ICHG2001#P1497 - {DB:Santiago} - M - Chile - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Talkop 1999 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Talkop 1999 - M - Estonia - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Gillard 1989 - - Germline - - - - - DNA Southern - - BMD - PubMed: Gillard 1989 analysis 81 deletion cases M - Canada - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Gillard 1989 - - Germline - - - - - DNA Southern - - MD - PubMed: Gillard 1989 analysis 81 deletion cases M - Canada - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 3' junction fragment PubMed: Hodgson, PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson, PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Comi - - Germline - - - - - DNA Southern - - BMD - PubMed: Comi analysis 59 BMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Baumbach - - Germline - - - - - DNA Southern - - MD - PubMed: Baumbach - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Beggs, PubMed: Sunohara - - Germline - - - - - DNA PCRm, Southern - - MYOP - PubMed: Beggs, PubMed: Sunohara - M - Japan - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.6439_6912del p.Glu2147_Lys2304del Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - Fajkusova, ICHG2001#P1073 - {DB:Brno} - - Germline - - - - - DNA, RNA RT-PCR, PTT - - BMD - Fajkusova, ICHG2001#P1073 - {DB:Brno} - M - Czech Republic - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.? Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del g.32,014,750_31,838,750del - DMD_054547 176 Kb deletion PubMed: Hegde 2008 - - Germline - - - - - DNA arrayCGH - - MD - PubMed: Hegde 2008 - M - - - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.? Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del g.32,003,438_31,855,778del - DMD_054547 147.661 Kb deletion PubMed: Hegde 2008 - - Germline - - - - - DNA arrayCGH - - MD - PubMed: Hegde 2008 - M - - - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(?) p.del Maternal (inferred) - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del del ex45-47 - DMD_054547 - PubMed: Lee 2012 - - Unknown - - - - - DNA PCRm - - DMD - PubMed: Lee 2012 - M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Norman - - Germline - - - - - DNA Southern - - BMD - PubMed: Norman analysis 58 BMD/DMD families - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Beggs, PubMed: Sunohara - - Germline - - - - - DNA PCRm, Southern - - MYOP - PubMed: Beggs, PubMed: Sunohara - M - Japan - >32y - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Niemann-Seyde - - Germline - - - - - DNA PCRm - - MD - PubMed: Niemann-Seyde analysis 67 BMD/DMD cases M - Germany - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Giliberto - - Germline - - - - - DNA PCRm - - BMD - PubMed: Giliberto - M - Argentina - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Sironi - - Germline - - - - - DNA Southern - - BMD - PubMed: Sironi - M - Italy - >32y - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Simard 1992 - - Germline - - - - - DNA Southern - - BMD - PubMed: Simard 1992 analysis 77 BMD/DMD cases M - Canada - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Gillard 1989 - - Germline - - - - - DNA Southern - - BMD - PubMed: Gillard 1989 analysis 81 deletion cases M - Canada - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Hodgson, PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson, PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Niemann-Seyde - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BMD - PubMed: Niemann-Seyde analysis 67 BMD/DMD cases M - Germany - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Baumbach - - Germline - - - - - DNA Southern - - MD - PubMed: Baumbach - M - United States - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Sironi - - Germline - - - - - DNA Southern - - BMD - PubMed: Sironi - M - Italy - >15y - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Gillard 1989 - - Germline - - - - - DNA Southern - - BMD - PubMed: Gillard 1989 analysis 81 deletion cases M - Canada - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Muntoni - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Gilgenkrantz - - Germline - - - - - DNA Southern - - BMD - PubMed: Gilgenkrantz analysis 45 deletion cases M - France - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - BMD - PubMed: Covone 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - BMD - PubMed: Covone 1991 - M - Italy - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - BMD - PubMed: Covone 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 ex48 junction fragment PubMed: Darras - - Germline - - - - - DNA Southern - - BMD - PubMed: Darras - M - United States - - - - - 2 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Bushby - - Germline - - - - - DNA PCRm, Southern - - - - PubMed: Bushby analysis 67 BMD patients M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Kumari - - Germline - - - - - DNA PCRm, Southern - - BMD - PubMed: Kumari - M - India - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Kumari - - Germline - - - - - DNA PCRm, Southern - - MYOP - PubMed: Kumari - M - India - - - - - 1 Johan den Dunnen
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA Southern - - BMD - - - M - Belgium - - - - - 1 Ieke Ginjaar
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - Bulgaria - - - - - 1 Albena Todorova
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Stockley 2006 - - Germline - - - - - DNA PCRq - - BMD - PubMed: Stockley 2007 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Stockley 2006 - - Germline - - - - - DNA PCRq - - DMD - PubMed: Stockley 2007 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm, PCRq - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.? Parent #1 - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 149.4 Kb deletion PubMed: Saillour 2008 - - Germline - - - - - DNA arrayCGH, PCRq - - MD - PubMed: Saillour 2008 female carrier F - (France) - - - - - 1 Svetlana Kocheva
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - DMD #149? / #151 - - - - Argentina - - - - - 1 Florencia Giliberto
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - - - - Germline - - - - - DNA PCRm - - BMD #75 - - M - Argentina - - - - - 1 Florencia Giliberto
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Parent #1 - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 BMD carrier female F - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 44i_47i c.(6438+1_6439-1)_(6912+1_6913-1)del r.(6439_6912del) p.(del) Unknown - pathogenic (recessive) g.(31893491_31947712)_(31986632_32235032)del g.(31875374_31929595)_(31968515_32216915)del - - DMD_054547 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.