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.

29 entries on 1 page. Showing entries 1 - 29.
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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     
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.(1993_2168dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - PubMed: Tuffery-Giraud 2009, UMD 2978 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2978 database - M - France - - - - - 1 Johan den Dunnen
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.(1993_2168dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - PubMed: Tuffery-Giraud 2009, UMD 2143 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2143 database - M - Tunisia - - - - - 1 Johan den Dunnen
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.(e17-e17dup) p.(fs) Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup e17; c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >3y - - - 1 Johan den Dunnen
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.(1993_2168dup) p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - - - - Germline - - - - - DNA MLPA, PCRq - - DMD - - - M - Belgium - - - - - 1 Ieke Ginjaar
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.(1993_2168dup) p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.(1993_2168dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - PubMed: Gualandi 2009 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Gualandi 2009 Pat22 M - Italy - - - - - 1 Alessandra Ferlini
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17; c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17; c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D815 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17; c.(1992+1_1993-1)_(2168+1_2169-1)dup - DMD_021717 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D816 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup ex17dup, c.1993-?_2168+?dup - DMD_021717 - 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD3335 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 2/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Annexstad 2019 - - Germline/De novo (untested) - 1/67 cases - - - DNA MLPA - - BMD/DMD - PubMed: Annexstad 2019 analysis 67 unrelated DMD families M - Norway - - - - - 1 Johan den Dunnen
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 2/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.fs Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.fs Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 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
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown ACMG pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17, c.1993-?_2168+?dup - DMD_021717 ACMG PVS1, PS4, PM2 - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Teodora Barbarii
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #238LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
+/. 16i_17i c.(1851_2084)_(2084_2225)dup r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32563360_32583960)dup g.(32518075_32545243)_(32545243_32565843)dup dup ex17 - DMD_021717 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #13LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
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