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.

14 entries on 1 page. Showing entries 1 - 14.
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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     
-?/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(del) p.(del) Unknown - likely benign g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - - - - Germline - - - - - DNA arrayCGH - - ? private email contact me for details 2-generation family, asymptomatic male and carrier daughter F;M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - PubMed: Onengut - - Germline - - - - - DNA PCRm, Southern - - MD - PubMed: Onengut analysis 146 BMD/DMD deletion cases M - Turkey - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - PubMed: Carsana - - Germline - - - - - DNA PCRq - - BMD - PubMed: Carsana analysis 108 unrelated BMD/DMD cases M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - Cutiongco, ASHG2002#2206 - - Germline - - - - - DNA PCRm - - MD - Cutiongco, ASHG2002#2206 - M - Philippines - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del?) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 junction fragment exon 51 PubMed: Gillard 1989 - - Germline - - - - - DNA Southern - - DMD - PubMed: Gillard 1989 analysis 81 deletion cases - - Canada - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - PubMed: Muntoni - - Germline - - - - - DNA PCR, Southern - - BMD - PubMed: Muntoni - M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del?) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - PubMed: Mital - - Germline - - - - - DNA PCRm, Southern - - DMD - PubMed: Mital - M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del?) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - - - - Germline - - - - - DNA PCRm - - DMD - - - M - Bulgaria - - - - - 1 Albena Todorova
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(ex49ex51del) p.(?) Parent #1 - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - PubMed: Carsana 2010 - - Unknown - - - - - DNA PCRq - - MD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.? p.? Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del del ex49-51 - DMD_054951 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR - - DMD F200 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del?) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - - - - Germline - - - - - DNA PCRm - - DMD - - - M - Bulgaria - - - - - 1 Albena Todorova
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.(7099_7542del) p.(del?) Unknown - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del - - DMD_054951 - - - - Germline - - - - - DNA PCRm - - DMD - - - M - Bulgaria - - - - - 1 Albena Todorova
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del del ex49-51 - DMD_054951 - PubMed: Yuan 2019 - - Germline - - - - - DNA SEQ-NG - clinical WES CDLS, MD SMC1A-Pat6 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7098+1_7099-1)_(7542+1_7543-1)del r.? p.? Unknown - pathogenic (!) g.(31747866_31792076)_(31854937_31893304)del g.(31729749_31773959)_(31836820_31875187)del del ex49-51 - DMD_054951 - PubMed: Sun 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMD patient PubMed: Sun 2024 affected female F - United States - - - - - 1 Johan den Dunnen
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