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.

43 entries on 1 page. Showing entries 1 - 43.
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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     
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Luce 2018 - - Unknown - - - - - DNA SEQ-NG-I Blood WES DMD #326 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Luce 2018 - - Unknown - - - - - DNA SEQ-NG-I Blood WES DMD #394 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - 1 Florencia Giliberto
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Luce 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I Blood WES DMD #460 PubMed: Luce 2018 PubMed: Luce 2021 - M ? Argentina - - - - - 1 Florencia Giliberto
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Parent #1 - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Bennett - - Germline - - - - - DNA DHPLC, SEQ - - DMD - PubMed: Bennett - M - United States - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Parent #1 - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Bennett - - Germline - - - - - DNA DHPLC, SEQ - - DMD - PubMed: Bennett - M - United States - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.3151c>u p.Arg1051* Parent #1 - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - - - - Germline - - - - - DNA, RNA PTT - - DMD - - mother not tested M - United Kingdom (Great Britain) - - - - - 1 Emma Ashton
+/. 23 c.3151C>T r.3151c>u p.Arg1051* Maternal (confirmed) - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 de novo, in mother UMD 1655 database - - Germline - - - - - DNA, RNA PTT, RT-PCR, SEQ - - DMD - UMD 1655 database - M - France Ecuatorian - - - - 1 Mireille Claustres
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Parent #1 - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Almomani 2009 - - Germline - - - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Parent #1 - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - - - - Germline - - - - - DNA SEQ - - DMD - - carrier female, asymptomathic F - Italy - - - - - 1 Alessandra Ferlini
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Parent #1 - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Takeshima 2010 - - Germline - - - - - DNA, RNA SEQ - - DMD - PubMed: Takeshima 2010 - M - Japan - - - - - 1 Masafumi Matsuo
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat119 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat120 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Parent #1 - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - - - - Germline - - - - - DNA SEQ-NG - - - - - - M - Italy;Hungary - - - - - 2 Alessandra Ferlini
+/. 23 c.3151C>T r.(?) p.Arg1051* Unknown ACMG pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 ACMG grading: PM1,PP3,PS1,PP5,PM2; reported in Bennett 2001. BMC Genet 2: 17 - - rs398123929 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD Pat57 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Bonnal 2010 - - Germline - - - - - DNA DHPLC, SEQ - - BMD/DMD TU00107 PubMed: Bonnal 2010 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 germline mosaicism in mother PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0019 PubMed: Toksoy 2019 2-generation family, affected brothers, germline mosaicism in mother M - Turkey - - - - - 2 Güven Toksoy
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0052 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0089 PubMed: Toksoy 2019 singleton patient, no family history, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - 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
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zhong 2019 - - Germline - 2/78 carriers - - - DNA MLPA, SEQ - - Healthy/Control NMC14 PubMed: Zhong 2019 analysis 78 carriers BMD/DMD, healthy F - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zhong 2019 - - Germline - 2/78 carriers - - - DNA MLPA, SEQ - - Healthy/Control NMC33 PubMed: Zhong 2019 analysis 78 carriers BMD/DMD, healthy F - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Parent #1 - pathogenic g.32486626G>A g.32468509G>A - - DMD_000318 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123929 Germline - 3/2767 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Maternal (confirmed) - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Selvatici 2020 - - Germline - - - - - DNA MLPA, SEQ-NG - - BMD/DMD ? PubMed: Selvatici 2020 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Bosnia and Herzegovina - - - - - 2 Alessandra Ferlini
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Selvatici 2020 - - Germline - - - - - DNA MLPA, SEQ-NG - - BMD/DMD ? PubMed: Selvatici 2020 carrier mother of 3175/16 F - Bosnia and Herzegovina - - - - - 1 Alessandra Ferlini
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - BMD/DMD ? PubMed: Selvatici 2020 - M - Poland - - - - - 1 Alessandra Ferlini
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - BMD/DMD ? PubMed: Selvatici 2020 - M - Poland - - - - - 1 Alessandra Ferlini
+/. 23 c.3151C>T r.(?) p.(Arg1051*) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Torella 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD ? PubMed: Torella 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Buitrago 2023, PubMed: Ayala-Ramírez 2025 ClinVar-94576 rs398123929 Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD Pat16;Pat81 PubMed: Buitrago 2023, PubMed: Ayala-Ramírez 2025 - M - Colombia - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Maternal (confirmed) - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Tang 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat15 PubMed: Tang 2023 family, carrier mother M - China - - - - - 1 Johan den Dunnen
+/. - c.3151C>T r.(?) p.(Arg1051Ter) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Braga 2023 94576 rs398123929 Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown ACMG pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat102 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown ACMG pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat103 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown ACMG pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat104 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown ACMG pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat105 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown ACMG pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat106 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown ACMG pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat107 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat126 PubMed: Xie 2024 patient M - China - - - - Prednison,2.5 tablets 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12354 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12354 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 23 c.3151C>T r.(?) p.(Arg1051Ter) Unknown - pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12354 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. 23 c.3151C>T r.? p.(Arg1051Ter) Unknown - likely pathogenic (recessive) g.32486626G>A g.32468509G>A - - DMD_000318 - PubMed: Sawahreh 2025, Journal: Sawahreh 2025 - - Germline/De novo (untested) - - - - - DNA SEQ - - MD - PubMed: Sawahreh 2025, Journal: Sawahreh 2025 - M - Yemen - - - - - 1 Johan den Dunnen
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