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.

11 entries on 1 page. Showing entries 1 - 11.
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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_44i c.(-128065_-183)_(6381_6537)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - 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_44i c.(-128065_-183)_(6381_6537)del r.0? p.0? Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.-244_6438+?del  - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Carmela Scuderi
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del del ex1-44 - DMD_010144 - PubMed: Zhang 2019 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat30 PubMed: Zhang 2019 patient and carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del del ex1-44 - DMD_010144 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #34LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
+/. _1_44i c.(?_-183)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del del ex1-44 - DMD_010144 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del c.-244_(6438+1_6439-1)del - DMD_010144 del incl. promotor PubMed: Tuffery-Giraud 2009, UMD 3014 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 3014 database - M - France - - - - - 1 Johan den Dunnen
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.0? p.0? Parent #1 - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del c.-244_(6438+1_6439-1)del - DMD_010144 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del del ex1m-44; c.-244_(6438+1_6439-1)del - DMD_010144 - PubMed: Wang 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families, M - China - - - - - 1 Johan den Dunnen
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del del ex1-44; c.-244_(6438+1_6439-1)del - DMD_010144 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 0i_44 c.(-128065_-183)_(6381_6537)del r.0 p.0 Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del del ex1-44; c.-244_(6438+1_6439-1)del - DMD_010144 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - - - - 1 Johan den Dunnen
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