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.

39 entries on 1 page. Showing entries 1 - 39.
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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     
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Tuffery-Giraud 2009, UMD 7 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 7 database symptomatic DMD carrier F - (France) - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Tuffery-Giraud 2009, UMD 2659 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2659 database symptomatic DMD carrier F - (France) - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Tuffery-Giraud 2009, UMD 301 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 301 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Tuffery-Giraud 2009, UMD 2145 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2145 database - M - France - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Gatta 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Gatta 2005 - M - Italy - - - - - 2 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(6763_7309del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50; c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat182 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50; c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50; c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50; c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50; c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50; c.(6762+1_6763-1)_(7309+1_7310-1)del - DMD_014750 - PubMed: Polavarapu 2019 - - Germline yes - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, family, several affected M - India - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Zhang 2019 - - De novo - - - - - DNA MLPA - - BMD/DMD Pat24 PubMed: Zhang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Zhang 2019 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat33 PubMed: Zhang 2019 patient and carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0150 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - 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
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1347 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - 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
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 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
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(?) p.? Maternal (inferred) - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del - - - DMD_014750 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #652 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - DMD Pat8 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - Journal: El-Khoury 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat27 Journal: El-Khoury 2018 - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Iskandar 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD MNA PubMed: Iskandar 2022 - M - Indonesia - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - 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
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Jaxybayeva 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - MRC-Holland Salsa MLPA probemix P034/P035 BMD/DMD - PubMed: Jaxybayeva 2023 analysis 84 DMD patients M - Kazakhstan - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Jaxybayeva 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - MRC-Holland Salsa MLPA probemix P034/P035 BMD/DMD - PubMed: Jaxybayeva 2023 analysis 84 DMD patients M - Kazakhstan - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Liu 2023 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat79 PubMed: Liu 2023 female, son with DMD F - China - - - - - 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Dwianingsih 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD dmd24 PubMed: Dwianingsih 2023 - M - Indonesia - - - - - 1 Rusdy Ghazali Malueka
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.? Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 germline mosaicism PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - De novo - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 family, 2 affected, gemline mosaicism M - Turkey - - - - - 2 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Elhawary 2018 - - Germline/De novo (untested) - 2/45 cases - - - DNA MLPA - - BMD/DMD DS-29 PubMed: Elhawary 2018 analysis 45 unrelated male cases M - Saudi Arabia - - - - - 1 Nasser Attia Elhawary
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Elhawary 2018 - - Germline/De novo (untested) - 2/45 cases - - - DNA MLPA - - BMD/DMD DS-20 PubMed: Elhawary 2018 analysis 45 unrelated male cases M - Saudi Arabia - - - - - 1 Nasser Attia Elhawary
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat13 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
+/. 46i_50i c.(6705_6809)_(7309+13_7422)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31792197_31838079)_(31947816_31950254)del g.(31774080_31819962)_(31929699_31932137)del del ex47-50 - DMD_014750 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat14 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
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