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     
+/. 19 c.2302C>T r.2302c>u p.Arg768* Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Akalin - - Germline - - - - - DNA SSCA - - DMD - PubMed: Akalin - M - - - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A 2510C>T - DMD_000015 - PubMed: Prior, OMIM:var0015 - - Germline - - - - - DNA HD, DHPLC - - DMD - PubMed: Prior, OMIM:var0015 - M - United States - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.2302c>u p.Arg768* Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A 2510C>T - DMD_000015 - PubMed: Dubourg 1998, UMD 1506 database - - Germline - - - - - DNA SSCA - - DMD 10094565.p2 PubMed: Dubourg 1998, UMD 1506 database - M - France - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.2302c>u p.Arg768* Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Adachi 2002, PubMed: Takeshima 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMD - PubMed: Adachi 2002, PubMed: Takeshima 2010 analysis 76 dystrophinopathy families M - Japan - - - - - 1 Masafumi Matsuo
+/. 19 c.2302C>T r.(?) p.(Arg768*) Maternal (confirmed) - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Kneppers - - Germline - - - - - DNA SSCA - - DMD - PubMed: Kneppers carrier grandmother F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 19 c.2302C>T r.2302c>u p.Arg768* Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 RNA muscle PubMed: Tuffery-Giraud, UMD 1419 database - - Germline - - - - - DNA, RNA PTT, DHPLC - - DMD - PubMed: Tuffery-Giraud, UMD 1419 database - M - France - - - - - 1 Mireille Claustres
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Shen 2006 - - Germline - - - - - DNA DHPLC - - DMD - PubMed: Shen 2006 - M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Spitali 2009 - - Germline - - - - - DNA SEQ - - DMD 19760747-Pat9 PubMed: Spitali 2009 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A 2303C>T - DMD_000015 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - - - - Germline - - - - - DNA MLPA, SEQ - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Chen 2013 - - Germline yes - - - - DNA MLPA, SEQ - - DMD Pat7481 PubMed: Chen 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Maternal (confirmed) - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Yang 2013 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat05 PubMed: Yang 2013 carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 potential variant 2nd X-chromosome PubMed: Taylor 2007, {GenBankAF209166} - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007, {GenBankAF209166} symptomatic carrier F - Australia - - - - - 1 Sarah Lang
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Taylor 2007, {GenBankM65035} - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007, {GenBankM65035} - M - Australia - - - - - 1 Sarah Lang
+/. 19 c.2302C>T r.(?) p.(Arg768*) Maternal (confirmed) - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Taylor 2007, {GenBankM65036} - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007, {GenBankM65036} carrier mother F - Australia - - - - - 1 Sarah Lang
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - Waddle ESHG 2000 A491 - - Germline - - - - - DNA HD - - DMD - Waddle ESHG 2000 A491 - M - - - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.2302c>u p.Arg768* Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - - - - Germline - - - - - DNA SSCA - - DMD - - - M - - - - - - - 1 Serpil Eraslan
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat088 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat089 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - - - - Germline - - - - - DNA SEQ - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 19 c.2302C>T r.(?) p.(Arg768*) Maternal (confirmed) - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - BMD/DMD Pat50 PubMed: Wang 2019 carrier mother M - China Han - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD Pat83 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Maternal (confirmed) - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline - - - - - DNA SEQ - - DMD Pat97 PubMed: Ma 2018, Journal: Ma 2018 carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Maternal (confirmed) - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline - - - - - DNA SEQ - - DMD Pat184 PubMed: Ma 2018, Journal: Ma 2018 carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F149 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 symptomatic carrier F - Italy - - - - - 1 Alessandra Ferlini
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Milena Cau
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Bonnal 2010 - - Germline - - - - - DNA DHPLC, SEQ - - BMD/DMD TU00005 PubMed: Bonnal 2010 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 19 c.2302C>T r.(?) p.(Arg768*) Maternal (inferred) - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Chen 2014 - - Germline - 1/119 cases - - - DNA MLPA, SEQ - - DMD D90 PubMed: Chen 2014 - M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Maternal (inferred) - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Chen 2014 - - Germline - 1/119 cases - - - DNA MLPA, SEQ - - DMD D102 PubMed: Chen 2014 - M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - 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
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - 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
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Wang 2017 - - Germline/De novo (untested) - 1/128 cases - - - DNA MLPA, SEQ - - BMD/DMD Pat14 PubMed: Wang 2017 no family history M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown ACMG pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 ACMG PVS1, PM1, PM2, PP3, PP5 PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD PatS11 PubMed: Kohli 2020 - M - India - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 19 c.2302C>T r.(?) p.(Arg768*) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 19 c.2302C>T r.(?) p.(Arg768*) Parent #1 ACMG pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Nerakh 2021 - - Germline - - - - - DNA MLPA, SEQ-NG - - Healthy/Control Mot1 PubMed: Nerakh 2021 carrier mother F - India - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768Ter) Unknown ACMG pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat76 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768Ter) Unknown ACMG pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat77 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768Ter) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Nardes 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD Pat3 PubMed: Nardes 2024 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 19 c.2302C>T r.(?) p.(Arg768Ter) Unknown - pathogenic (recessive) g.32519950G>A g.32501833G>A - - DMD_000015 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 11789 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
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