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.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.(fs*) Unknown g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D424 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.(fs*) Unknown g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D595 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0? Unknown g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c Jorge ESHG2006 P1191 - - Germline - - - 0 - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - 0 - - 2 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.? Maternal (inferred) g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del chrX:g.(33109254_33109360)_(33268716_38091392)del; c.-244_(31+1_32-1)del - DMD_010001 159.4 Kb deletion PubMed: delGaudio 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: delGaudio 2008 - M - United States - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0? Parent #1 g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0? Parent #1 g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0? Unknown g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA PCRm - - DMD - - - M - Serbia Montenegro - 0 - - 1 Tanja Lalic
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