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     
+/. 2i_16i c.(58_127)_(1851_2084)dup r.(94_1992dup) p.(dup) Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup c.(93+1_94-1)_(1992+1_1993-1)dup - DMD_020316 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup ex3-16dup - DMD_020316 - PubMed: Yang 2019 - - Germline - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P70 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup ex3ex16dup, c.94-?_1992+?dup - DMD_020316 - 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
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup ex3ex16dup, c.94-?_1992+?dup - DMD_020316 - 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
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.? Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup ex3ex16dup, c.94-?_1992+?dup - DMD_020316 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - - - M - Italy - - - - - 1 Emiliano Giardina
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup ex3ex16dup, c.94-?_1992+?dup - DMD_020316 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Dr Silvana Tedeschi
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.? Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup dup ex3-16 - DMD_020316 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD5838 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_16i c.(58_127)_(1851_2084)dup - - Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup dup ex1 and dup ex3-16 - DMD_020316 non-contiguous duplication ex1 and duplication ex3-16 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7297 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.? Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup dup ex3-16 - DMD_020316 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
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.? Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup dup ex3-16 - DMD_020316 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
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.(dup) Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup dup ex3-16 c.94_1993dup - DMD_020316 - PubMed: Triana-Fonseca 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Triana-Fonseca 2021 - M - Colombia - - - - - 1 Johan den Dunnen
+/. 2i_16i c.(58_127)_(1851_2084)dup r.(del) p.(del) Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup dup ex3-16 - DMD_020316 - PubMed: Mori-Yoshimura 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Mori-Yoshimura 2018 - M - Japan - - - - - 1 Johan den Dunnen
+/. 2i_16i c.(58_127)_(1851_2084)dup r.? p.? Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup dup ex3-16 - DMD_020316 - 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
+/. 2i_16i c.(58_127)_(1851_2084)dup r.(dup) p.(dup) Unknown - pathogenic (recessive) g.(32563360_32583960)_(32867904_33038291)dup g.(32545243_32565843)_(32849787_33020174)dup dup ex3-16 - DMD_020316 - 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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