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.

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.(1603_2168dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - PubMed: Tuffery-Giraud 2009, UMD 139 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 139 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.(1603_2168dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 390 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 390 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.(1603_2168dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - PubMed: Tuffery-Giraud 2009, UMD 391 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 391 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.(1603_2168dup) p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - Jorge ESHG2006 P1191 - - Germline - - - - - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.(1603_2168dup) p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - - - - Germline - - - - - DNA MLPA, PCRq - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.(1603_2168dup) p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.(1603_2168dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - - - - Germline - - - - - DNA ? - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17; c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - 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
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17; c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D813 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17; c.(1602+1_1603-1)_(2168+1_2169-1)dup - DMD_021417 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D814 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup ex14ex17dup, c.1603-?_2168+?dup - DMD_021417 - 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
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17 - DMD_021417 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 13i_17i c.(1601_1603-8)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17 - DMD_021417 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
+/. 13i_17i c.(1603_1603-8)_(2084_2225)dup r.? p.(fs*) Paternal (confirmed) - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17 - DMD_021417 - PubMed: Gaina 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD Pat22 PubMed: Gaina 2021 patient M - Romania - - - - - 1 Gisela Gaina
+/. 13i_17i c.(1603_1603-8)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17 - DMD_021417 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 13i_17i c.(1603_1603-8)_(2084_2225)dup r.(dup) p.(fs) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17 - DMD_021417 - PubMed: Dwianingsih 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD dmd35 PubMed: Dwianingsih 2023 - M - Indonesia - - - - - 1 Rusdy Ghazali Malueka
+/. 13i_17i c.(1603_1603-8)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32591971_32613875)dup g.(32518075_32545243)_(32573854_32595758)dup dup ex14-17 - DMD_021417 - PubMed: Wijekoon 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD DMD127 PubMed: Wijekoon 2024 patient M - Sri Lanka - - - - - 1 Johan den Dunnen
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