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.

27 entries on 1 page. Showing entries 1 - 27.
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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_11i c.(858_987)_(1174_1384)dup r.(961_1331dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - PubMed: Tuffery-Giraud 2009, UMD 137 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 137 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.(961_1331dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - PubMed: Tuffery-Giraud 2009, UMD 2478 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2478 database - M - France - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.(961_1331dup) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 9i_11i c.(858_987)_(1174_1384)dup r.(961_1331dup) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - - - - Germline - - - - - DNA MLPA, Southern - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 9i_11i c.(858_987)_(1174_1384)dup r.(961_1331dup) p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA, PCRq - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 9i_11i c.(858_987)_(1174_1384)dup r.(961_1331dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - PubMed: Gualandi 2009 - - Germline - - - - - DNA MLPA, PCRq - - DMD - PubMed: Gualandi 2009 Pat16 M - Italy - - - - - 1 Alessandra Ferlini
+/. 9i_11i c.(858_987)_(1174_1384)dup r.(961_1331dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - PubMed: Carsana 2010 - - Unknown - - - - - DNA MLPA - - MD - PubMed: Carsana 2010 analysis 176 unrelated male patients M - Italy - - - - - 1 Antonella Carsana
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11; c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - PubMed: Wang 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families, M - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11; c.(960+1_961-1)_(1331+1_1332-1)dup - DMD_021011 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D805 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup ex10-11dup - DMD_021011 - PubMed: Yang 2019 - - De novo - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P78 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - DNA MLPA, SEQ - - BMD/DMD dup PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - 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
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - DNA MLPA, SEQ - - BMD/DMD dup PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.(fs) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.fs Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.fs Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 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_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 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_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 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_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup ex10-11 dup - DMD_021011 - PubMed: Pottie 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - - BMD/DMD Ind3 PubMed: De Palma 2021 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 ACMG PSV1, PS4mod, PM2 PubMed: Braga 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - 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
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - PubMed: Sagi-Dain 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, family history M - Israel - - - - - 1 Johan den Dunnen
+/. 9i_11i c.(858_987)_(1174_1384)dup r.? p.? Unknown - pathogenic (recessive) g.(32632518_32662406)_(32663243_32716089)dup g.(32614401_32644289)_(32645126_32697972)dup dup ex10-11 - DMD_021011 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #195LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
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