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.

9 entries on 1 page. Showing entries 1 - 9.
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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_1i c.(-128065_-183)_(-183_58)dup r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup dup ex1 and dup ex3-16 - DMD_020101 non-contiguous duplication ex1 and duplication ex3-16 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7297 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58)dup r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup del ex1 - DMD_020101 - PubMed: Zamani 2022, Journal: Zamani 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Zamani 2022, Journal: Zamani 2022 - M - Iran - - - - - 1 Johan den Dunnen
-?/. 0i_1i c.-244(_-183)_(-183_58)dup r.? p.? Maternal (confirmed) - likely benign g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup dup ex1 arr[GRCh37] Xp21.1(33,158,437-33,293,101)x3 DMD_020101 135 kb gain at Xp21.1;FISH interstitial duplication in DMD gene; asymptomatic brother (37y) carries duplication Ginjaar 2024, submitted - - Germline - - - - - DNA arrayCGH, MLPA, FISH - - ? Ind23 Ginjaar 2024, submitted - F - - - - - - - 2 Hermine van Duyvenvoorde
-?/. 0i_1i c.-244(_-183)_(-183_58)dup r.? p.? Maternal (confirmed) - likely benign g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup dup ex1 arr[GRCh37] Xp21.1(33,150,225-33,292,999)x2 DMD_020101 145 kb gain at Xp21.1; asymptomatic grandfather (61y) carries duplication Ginjaar 2024, submitted - - Germline - - - - - DNA arrayCGH, MLPA - - ? Ind24 Ginjaar 2024, submitted fetus M - - - - - - - 2 Hermine van Duyvenvoorde
+?/. 0i_1i c.(-128065_-183)_(-183_58)dup r.(=?) p.(=?) Parent #1 - likely pathogenic g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 duplication Dp427m promoter PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - - - - DNA MLPA - - DMD 26110187-Pat8d PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 2-generation family, affected brothers, proband M - South Africa black >15y - - - 2 Johan den Dunnen
+?/. 0i_1i c.(-128065_-183)_(-183_58)dup r.(=?) p.(=?) Parent #1 - likely pathogenic g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 duplication Dp427m promoter PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - - - - DNA MLPA - - DMD 26110187-Pat7d PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 affected brother M - South Africa black - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)dup r.? p.? Parent #1 - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
-/. 0i_1i c.(-128065_-183)_(-183_58)dup r.? p.? Unknown - benign g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Mexico - - - - - 1 Lucila Sandoval Ramirez
?/. 0i_1i c.(-128065_-183)_(-183_58)dup r.? p.? Unknown - VUS g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 - PubMed: López-Hernández 2015 - - Germline - - - - - DNA MLPA - - MD - PubMed: López-Hernández 2015 - F - Mexico mestizo - - - - 1 Luz Berenice Lopez-Hernandez
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