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.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.(?_-244)_31+?del - DMD_010101 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.-244_31+?del - DMD_010101 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - - - F - Italy - - - - - 1 Emiliano Giardina
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.1-?_31+?del - DMD_010101 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD2030 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0100 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0148 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Sagi-Dain 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, no family history M - Israel - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Sagi-Dain 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, family history M - Israel - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Ge 2024 - - Germline - - - - - DNA MLPA, SEQ-NG - - BMD/DMD 18C053835 PubMed: Ge 2024 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 2430 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2430 database - M - France - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 1594 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1594 database - M - France - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 del incl. promotor; de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 3007 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 3007 database - M - France - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 703 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 703 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 1987 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1987 database - M - France - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.(e1-e1del) p.0? Parent #1 - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del e1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.0? p.0? Parent #1 - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Suh 2017 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat? PubMed: Suh 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Suh 2017 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat? PubMed: Suh 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Wei 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel DMD P7 PubMed: Wei 2011 - - - China - - - - - 1 Johan den Dunnen
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