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.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 inherited maternal grand mother PubMed: Carsana - - Germline - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Carsana - - Germline - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Banerjee - - Germline - - - - - DNA Southern - - MD - PubMed: Banerjee analysis 160 BMD/DMD families M - India - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Baumbach - - Germline - - - - - DNA Southern - - BMD - PubMed: Baumbach - M - United States - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Niemann-Seyde - - Germline - - - - - DNA PCRm - - BMD - PubMed: Niemann-Seyde analysis 67 BMD/DMD cases M - Germany - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Giliberto - - Germline - - - - - DNA PCRm - - BMD - PubMed: Giliberto - M - Argentina - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(?) p.del? Parent #1 - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del del ex48-49 - DMD_054849 - PubMed: Lee 2012 - - Unknown - - - - - DNA PCRm - - DMD - PubMed: Lee 2012 - M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Comi - - Germline - - - - - DNA Southern - - BMD - PubMed: Comi analysis 59 BMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Hodgson - - Germline - - - - - DNA Southern - - BMD - PubMed: Hodgson - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Covone 1991 - - Germline - - - - - DNA Southern, PCR - - BMD - PubMed: Covone 1991 - - - Italy - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Mital - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Mital - M - Italy - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Darras - - Germline - - - - - DNA Southern - - BMD - PubMed: Darras - M - United States - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - - - - Germline - - - - - DNA PCRm - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - - - - Germline - - - - - DNA PCRm, MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - - - - Germline - - - - - DNA PCRm, MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Stockley 2006 - - Germline - - - - - DNA PCRq - - BMD - PubMed: Stockley 2007 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Taylor 2007 - - Germline - - - - - DNA PCRm, PCRq - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR - - BMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - - - - Germline - - - - - DNA Southern - - BMD - - - M - Brazil - - - - - 2 Mayana Zatz
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - - - - Germline - - - - - DNA Southern - - DMD - - - M - Brazil - - - - - 2 Mayana Zatz
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(ex48ex49del) p.(?) Parent #1 - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq - - MD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del del ex48-49 - DMD_054849 no sequence exons 48-49 suggests deletion PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Banerjee - - Germline - - - - - DNA Southern - - BMD/DMD - PubMed: Banerjee analysis 160 BMD/DMD families M - India - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(ex48ex49del) p.(?) Parent #1 - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del?) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Prior 2005 - - Germline - - - - - DNA PCR, Southern - - DMD - PubMed: Prior 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(6913_7200del) p.(del) Unknown - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Banerjee - - Germline - - - - - DNA Southern - - BMD/DMD - PubMed: Banerjee analysis 160 BMD/DMD families M - India - - - - - 1 Johan den Dunnen
+/. 47i_49i c.(6912+1_6913-1)_(7200+1_7201-1)del r.(ex48ex49del) p.(?) Parent #1 - pathogenic (recessive) g.(31838201_31854834)_(31893491_31947712)del g.(31820084_31836717)_(31875374_31929595)del - - DMD_054849 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq - - BMD/DMD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
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