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.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/. 44i_49i c.(6438+1_6439-1)_(7200+1_7201-1)dup r.(?) p.(?) Maternal (inferred) ACMG likely pathogenic (recessive) g.(31838078_31854946)_(31986532_32235089)dup - - - DMD_024549 Patient carrying a discontinuous duplication - - - Unknown - - - - - DNA arrayCGH, MLPA blood - autism, DMD #747 PubMed: Luce 2021 Patient carrying a discontinuous duplication M no Argentina - >08y - - - 1 Florencia Giliberto
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.(6439_7200dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - PubMed: Tuffery-Giraud 2009, UMD 1752 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1752 database - M - France - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.(6439_7200dup) p.(dup) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.(6439_7200dup) p.(dup) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Piko 2009 analysis 135 BMD/DMD cases M - Hungary - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.(e45-e49dup) p.(dup?) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup e45-e49; c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.(6439_7200dup) p.(dup) Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.(6439_7200dup) p.(dup?) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA, PCRq - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup ex45ex49dup; c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - - - - Unknown - - - - - DNA MLPA - - Healthy/Control - - asymptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat180 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 100 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49; c.(6438+1_6439-1)_(7200+1_7201-1)dup - DMD_024549 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D799 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.(del) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup ex45ex49dup, c.6439-?_7200+?dupĀ  - DMD_024549 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD1487 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup - - Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup exDp427c-1 and dup ex45-49 - DMD_024549 non-contiguous duplication exDp427c-1 and ex45-49 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD8136 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - PubMed: Manjunath 2015 - - Germline/De novo (untested) - - - - - DNA MLPA, PCRm - - BMD/DMD Case63 PubMed: Manjunath 2015 - - - India - - - - - 1 Johan den Dunnen
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 1/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup - - Parent #1 - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex2 and 45-49 - DMD_024549 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
./. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - 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
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - 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
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.? p.? Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - 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
+/. 44i_49i c.(6381_6537)_(7099-11_7309+13)dup r.(dup) p.(dup) Unknown - pathogenic (recessive) g.(31838079_31854947)_(31986533_32235090)dup g.(31819962_31836830)_(31968416_32216973)dup dup ex45-49 - DMD_024549 - 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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