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.

21 entries on 1 page. Showing entries 1 - 21.
Legend   How to query  

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     
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(7543_7872del) p.(?) Maternal (confirmed) - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del c.(7542+1_7543-1)_(7872+1_7873-1)del - DMD_015253 - PubMed: Lo 2006 - - Germline - - - - - DNA MLPA, PCRm - - BMD - PubMed: Lo 2006 carrier mother M - China - - - - - 2 Johan den Dunnen
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(7543_7872del) p.(del) Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del chrX.hg18:g.31,606,256_31,658,241del; c.(7542+1_7543-1)_(7872+1_7873-1)del - DMD_015253 deletion 52Kb PubMed: Lim 2011 - - Germline - - - - - DNA SEQ-NG-I, MLPA - - MD - PubMed: Lim 2011 - M - Korea - >14y6m - - - 1 Johan den Dunnen
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(7543_7872del) p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del c.(7542+1_7543-1)_(7872+1_7873-1)del - DMD_015253 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(7543_7872del) p.(fs*?) Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del c.(7542+1_7543-1)_(7872+1_7873-1)del - DMD_015253 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(7543_7872del) p.(del) Parent #1 - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del c.(7542+1_7543-1)_(7872+1_7873-1)del - DMD_015253 - - - - Germline - - - - - DNA MLPA, PCR - - hCK - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53; c.(7542+1_7543-1)_(7872+1_7873-1)del - DMD_015253 - 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
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52ex53, c.7543-?_7872+?del - DMD_015253 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - hCK - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del ex52ex53del, c.7543-?_7872+?del - DMD_015253 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del ex52ex53del, c.7543-?_7872+?del  - DMD_015253 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 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
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del - - DMD_015253 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - PubMed: Niu 2020 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat33 PubMed: Niu 2020 carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - DNA MLPA - - Healthy/Control - PubMed: Singer 2023 pan-ethnic female DMD carrier screening (85,737 tests) F - Israel - - - - - 1 Johan den Dunnen
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - 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
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.? p.? Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - 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
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 3/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 3/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 51i_53i c.(7422_7628)_(7786_7908)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31676226_31697578)_(31747780_31792197)del g.(31658109_31679461)_(31729663_31774080)del del ex52-53 - DMD_015253 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 3/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.