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     
+/. 9i_41i c.(858_987)_(5811_5951)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del c.(960+1_961-1)_(5922+1_5923-1)del - DMD_011041 not listed in paper PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >14y - - - 1 Manuel F. Mas Rodriguez
+/. 9i_41i c.(858_987)_(5811_5951)del r.(961_5922del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del c.(960+1_961-1)_(5922+1_5923-1)del - DMD_011041 - PubMed: Tuffery-Giraud 2009, UMD 422 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 422 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_41i c.(858_987)_(5811_5951)del r.? p.(del) Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del ex10ex41del, c.961-?_5922+?del - DMD_011041 - 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
+/. 9i_41i c.(858_987)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del del ex10-41 - DMD_011041 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
+/. 9i_41i c.(858_987)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del del ex10-41 - DMD_011041 - PubMed: Megarbane 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Megarbane 2021 - - - Lebanon - - - - - 1 Johan den Dunnen
+/. 9i_41i c.(858_987)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del - - DMD_011041 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 9i_41i c.(858_987)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del - - DMD_011041 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 9i_41i c.(858_987)_(5811_5951)del r.? p.(del) Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del del ex10-41 - DMD_011041 - PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - DNA MLPA - - Healthy/Control - PubMed: Singer 2023 pan-ethnic female DMD carrier screening (85,737 tests) F - Israel - - - - - 1 Johan den Dunnen
+/. 9i_41i c.(858_987)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del del ex10-41 - DMD_011041 - PubMed: Braga 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. 9i_41i c.(858_987)_(5811_5951)del r.? p.(del) Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del del ex10-41 - DMD_011041 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat167 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
+/. 9i_41i c.(858_987)_(5811_5951)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(32328365_32360328)_(32663243_32716089)del g.(32310248_32342211)_(32645126_32697972)del del ex10-41 - DMD_011041 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 1/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
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