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.

56 entries on 1 page. Showing entries 1 - 56.
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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     
+/. 6 c.433C>T r.(=) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Luce 2018 - - Unknown ? - - - - DNA SEQ-NG-I Blood WES DMD #392 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - 1 Florencia Giliberto
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Nigro - - Germline - - - - - DNA PCR, SSCA - - DMD - PubMed: Nigro - M - - - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A 641C>T - DMD_000032 - PubMed: Lenk acc. to Roberts, OMIM:var0032 - - Germline - - - - - DNA PCR, SSCA - - DMD - PubMed: Lenk acc. to Roberts, OMIM:var0032 - M - - - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (confirmed) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Hofstra - - Germline - - - - - DNA DGGE - - DMD - PubMed: Hofstra carrier mother F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.433C>T r.433c>u p.Arg145* Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 RNA muscle PubMed: Tuffery-Giraud - - Germline - - NlaIV- - - DNA, RNA PTT, RT-PCR, BESS - - DMD - PubMed: Tuffery-Giraud - M - France - - - - - 1 Mireille Claustres
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (inferred) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - UMD 2495 database - - Germline - - NlaIV- - - DNA SEQ - - DMD - UMD 2495 database - M - France - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (inferred) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - UMD 2851 database - - Germline - - NlaIV- - - DNA SEQ - - DMD - UMD 2851 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 6 c.433C>T r.433c>u p.Arg145* Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Takeshima 2010 - - Germline - - - - - DNA, RNA SEQ - - DMD - PubMed: Takeshima 2010 - M - Japan - - - - - 1 Masafumi Matsuo
+/. 6 c.433C>T r.433c>u p.Arg145* Maternal (inferred) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 RNA muscle - - - De novo - - - - - RNA RT-PCR, SEQ - - DMD - - - M - Spain - - - - - 1 Jonás Juan-Mateu
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 ACMG pathogenic g.32834682G>A g.32816565G>A 641C>T - DMD_000032 ACMG PVS1, PS4, PM2 PS Lai ASHG 2010 A1642, PubMed: Tomar 2019 - - Germline - - - - - DNA MCA, SEQ - - DMD Case 138 PS Lai ASHG 2010 A1642, PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - - - - Germline - - - - - DNA SEQ - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Stockley 2006 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Stockley 2006 analysis 165 BMD/DMD cases M - Canada - - - - - 1 Peter Ray
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Taylor 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Sarah Lang
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Taylor 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Sarah Lang
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Kinali 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Kinali 2007 nephew of 17339110.2 M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Kinali 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Kinali 2007 uncle of 17339110.1 M - United Kingdom (Great Britain) - 14y - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Flanigan 2009 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Flanigan 2009 - - Germline - - - - - DNA DGGE - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 6 c.433C>T r.(?) p.(Arg145*) Parent #1 - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - - - - Germline - - - - - DNA SEQ - - DMD - - - M - - - - - - - 1 Peter Kang
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat017 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat018 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (inferred) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil Vitoria - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (inferred) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil Campinas - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (inferred) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Guo 2015 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD MD1946 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (inferred) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Guo 2015 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD MD8473 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD Pat17 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD Pat35 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD Pat87 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (confirmed) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline - - - - - DNA SEQ - - DMD Pat129 PubMed: Ma 2018, Journal: Ma 2018 carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Maternal (confirmed) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline - - - - - DNA SEQ - - DMD Pat187 PubMed: Ma 2018, Journal: Ma 2018 carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Bonnal 2010 - - Germline - - - - - DNA DHPLC, SEQ - - BMD/DMD TU00182 PubMed: Bonnal 2010 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Bonnal 2010 - - Germline - - - - - DNA DHPLC, SEQ - - BMD/DMD TU00294 PubMed: Bonnal 2010 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Bonnal 2010 - - Germline - - - - - DNA DHPLC, SEQ - - BMD/DMD TU00378 PubMed: Bonnal 2010 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD Pt-stop PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown ACMG pathogenic g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ saliva - BMD/DMD PM52 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A c.433G>T - DMD_000032 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 6 c.433C>T r.(?) p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A c.433G>T - DMD_000032 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 6 c.433C>T r.? p.(Arg145*) Maternal (confirmed) - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Yun 2021 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat54 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.? p.(Arg145*) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - DMD Pat68 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Mori-Yoshimura 2022 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - DMD - PubMed: Mori-Yoshimura 2022 - M - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD D647 PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. - c.433C>T r.(?) p.(Arg145Ter) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Braga 2023 94697 rs398124008 Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.433C>T r.(?) p.(Arg145Ter) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Braga 2023 94697 rs398124008 Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown ACMG pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 ACMG PVS1, PS4, PM2 - - - Germline - - Teodora Barbarii - - DNA ? - - DMD - - - M - Romania - - - - - 1 Teodora Barbarii
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown ACMG pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat18 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown ACMG pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat19 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown ACMG pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat20 PubMed: Zhao 2024, Journal: Zhao 2024 family M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown ACMG pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat21 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12434 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 6 c.433C>T r.(?) p.(Arg145Ter) Unknown - pathogenic (recessive) g.32834682G>A g.32816565G>A - - DMD_000032 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12434 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
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