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.

32 entries on 1 page. Showing entries 1 - 32.
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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     
+/. 55 c.8038C>T r.8038c>u p.Arg2680* Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 RNA muscle, {GenBankS88396}-S88396 PubMed: Tuffery-Giraud, UMD 1432 database - - Germline - - - - - DNA, RNA PTT, DHPLC - - DMD - PubMed: Tuffery-Giraud, UMD 1432 database - M - France - - - - - 1 Mireille Claustres
+/. 55 c.8038C>T r.8038c>u p.Arg2680* Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Deburgrave 2007, UMD 1031 database - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMD - PubMed: Deburgrave 2007, UMD 1031 database - M - France - - - - - 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - - - - Germline - - - - - DNA SEQ - - DMD - - - M - Denmark - - - - - 1 Serpil Eraslan
+/. 55 c.8038C>T r.8038c>u p.Arg2680* Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 RNA muscle - - - Germline - - - - - DNA, RNA PTT - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - - - - Germline - - - - - DNA SEQ - - DMD - - - M - Germany - - - - - 1 Lab Müller-Reible
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 no variants 2nd X-chromosome - - - Germline - - - - - DNA DHPLC, SEQ - - DMD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 no variants 2nd X-chromosome - - - Germline - - - - - DNA DHPLC, SEQ - - DMD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Bennett 2009, Bennett ASHG2004 A1485 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Bennett 2009, Bennett ASHG2004 A1485 - M - United States - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Maternal (confirmed) - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Yan 2015 - - Germline - - - - - DNA MLPA, RT-PCR, SEQ - - DMD 25636106-Fam PubMed: Yan 2015 2-generation family, 1 affected, 3 carrier females (female, mother, sister) M - China - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Maternal (inferred) - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Magri 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD PatXXVI PubMed: Magri 2011 - M - Italy - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Maternal (confirmed) - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline - 1/1400 cases - - - DNA SEQ - - DMD Pat5 PubMed: Ma 2018, Journal: Ma 2018 carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD Pat43 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F185 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown ACMG pathogenic g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Tomar 2019 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD Case 131 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Parent #1 - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - - - M - Italy - - - - - 1 Giacomo Comi
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Hwa 2008 - - Germline - 2/114 cases - - - DNA SEQ - - BMD/DMD - PubMed: Hwa 2008 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Hwa 2008 - - Germline/De novo (untested) - 2/114 cases - - - DNA SEQ - - BMD/DMD - PubMed: Hwa 2008 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown ACMG pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 ACMG PVS1, PM2, PP3, PP5 PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD PatS28 PubMed: Kohli 2020 - M - India - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown ACMG pathogenic g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ whole blood - BMD/DMD CTPM32 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 carrier mother F - (United States) - - - - - 1 Madhuri Hegde
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 55 c.8038C>T r.(?) p.(Arg2680*) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 55 c.8038C>T r.(?) p.(Arg2680Ter) Unknown ACMG pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Reiner 2022 - - Germline - 1/16,467 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control DMD-2 PubMed: Reiner 2022 carrier screening 73,755 controls F - United States - - - - - 1 Johan den Dunnen
+/. - c.8038C>T r.(?) p.(Arg2680Ter) Maternal (confirmed) - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Braga 2023 217213 rs863225011 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Braga 2023 family, 3 affected M - Brazil - - - - - 3 Johan den Dunnen
+/. - c.8038C>T r.(?) p.(Arg2680Ter) Maternal (confirmed) - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Braga 2023 217213 rs863225011 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Braga 2023 relative M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.8038C>T r.(?) p.(Arg2680Ter) Maternal (confirmed) - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Braga 2023 217213 rs863225011 Germline - - - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Braga 2023 relative M - Brazil - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680Ter) Unknown ACMG pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat230 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680Ter) Unknown ACMG pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat231 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680Ter) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12893 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680Ter) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12893 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 55 c.8038C>T r.(?) p.(Arg2680Ter) Unknown - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12893 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.8038C>T r.(?) p.(Arg2680Ter) Maternal (inferred) - pathogenic (recessive) g.31645969G>A g.31627852G>A - - DMD_000550 - PubMed: Ayala-Ramirez 2025 ClinVar-217213 rs863225011 Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat122 PubMed: Ayala-Ramirez 2025 patient M - Colombia - - - - - 1 Johan den Dunnen
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