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.

35 entries on 1 page. Showing entries 1 - 35.
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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     
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Tuffery-Giraud 2009, UMD 381 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 381 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Tuffery-Giraud 2009, UMD 1026 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1026 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Tuffery-Giraud 2009, UMD 382 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 382 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Tuffery-Giraud 2009, UMD 1189 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1189 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Khordadpoor-Deilamani 2011 - - Germline - - - - - DNA MLPA - - MD - PubMed: Khordadpoor-Deilamani 2011 - M - Iran - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(e8-e11dup) p.(fs) Parent #1 - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup e8-e11; c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >6y - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*?) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Todorova 2008, Todorova, ESHG 2007 P0800 - M - Bulgaria - - - - - 1 Bilyana Georgieva
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup ex8ex11dup; c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.(650_1331dup) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11; c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11; c.(649+1_650-1)_(1331+1_1332-1)dup - DMD_020811 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D881 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD9975 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD dup PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - MD dup PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - 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
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Zimowski 2014 - - De novo - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1273 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - 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
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.(fs) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.fs Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.fs Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 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
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.(fs) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - 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), family history affected brother F - Israel - - - - - 2 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - 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
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Liu 2023 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat25 PubMed: Liu 2023 female, nephew DMD, carrier mother (Pat51) F - China - - - - - 2 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Liu 2023 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat51 PubMed: Liu 2023 female with carrier daughter (Pat25) F - China - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 variant differs from variant reported in mother PubMed: Liu 2023 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat54 PubMed: Liu 2023 female with carrier mother (Pat40) F - China - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.(fs) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat66 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Sagi-Dain 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, no family history M - Israel - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Sagi-Dain 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, family history M - Israel - - - - - 1 Johan den Dunnen
+/. 7i_11i c.(557_831+10)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #48LP PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
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