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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. _0_1i c.-244_(-182_59)del r.? p.? Unknown - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c-ex1 - DMD_010001 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - 0 - DNA MLPA, SEQ - - hCK CASE_0225 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier F - Turkey - - 0 - - 1 Güven Toksoy
+/. _0_1i c.-244_(-182_59)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del ex1-promotor - DMD_010001 - PubMed: Garcia-Planells 2009 - - Germline - - - 0 - DNA MLPA - - BMD/DMD - PubMed: Garcia-Planells 2009 patient, carrier mother M - Spain - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)[0] r.? p.(fs*) Unknown - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D424 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59)[0] r.? p.(fs*) Unknown - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D595 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59)[0] r.? p.0? Unknown - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c/ex1, c.(?_-128297)_31+?del - DMD_010001 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat01 PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients M - Serbia - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-18[0]2_59)[0] r.? p.? Unknown - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del exDp427c-1 - DMD_010001 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - DNA MLPA - - DMD MD6215 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)[0] r.0? p.0? Unknown - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)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)[0] r.0? p.0? Parent #1 - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)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)[0] r.0? p.0? Parent #1 - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)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)[0] r.0 p.0 Maternal (inferred) - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - 1 Moon-Woo Seong
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