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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/. 0i_2i c.-244(_-182)_(59_128)del r.? p.? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2 - DMD_010102 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - - - - - India - - 0 - - 1 Shubha R Phadke
+/. 0i_2i c.-244(_-182)_(59_128)[0] r.? p.(fs*) Unknown - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2; c.(-127947_-245)_(93+1_94-1)del - DMD_010102 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D417 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 0i_2i c.-244(_-182)_(59_128)[0] r.0? p.0? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex01ex02, c.-244-?_93+?del - DMD_010102 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - Healthy/Control - PubMed: Neri 2020, Journal: Neri 2020 carrier female F - Italy - - 0 - - 1 Alessandra Ferlini
+/. 0i_2i c.-244(_-182)_(59_128)[0] r.? p.? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2 - DMD_010102 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - DNA MLPA - - DMD MD2724 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_2i c.-244(_-182)_(59_128)[0] r.? p.? Parent #1 - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del ex1ex2del; c.-244_(93+1_94-1)del - DMD_010102 - - - - Unknown - - - 0 - DNA MLPA - - DMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/. 0i_2i c.-244(_-182)_(59_128)del r.0? p.0? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del c.-244_(93+1_94-1)del - DMD_010102 - PubMed: Zeng 2007 - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_2i c.-244(_-182)_(59_128)del r.0? p.0? Parent #1 - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del c.-244_(93+1_94-1)del - DMD_010102 - - - - Germline - - - 0 - DNA MLPA, PCR - - DMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/. 0i_2i c.-244(_-182)_(59_128)del r.0 p.0 Unknown - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2; c.-244_(93+1_94-1)del - DMD_010102 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - 0 - - 1 Johan den Dunnen
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