All variants in the DMD gene

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.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 34i_35i c.(4739_4890)_(4890_5080)del r.? p.? - pathogenic (recessive) g.(32382773_32383272)_(32383272_32398733)del g.(32364656_32365155)_(32365155_32380616)del del ex35 - DMD_013535 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 34i_35i c.(4739_4890)_(4890_5080)del r.(4846_5025del) p.(del?) - pathogenic (recessive) g.(32382773_32383272)_(32383272_32398733)del g.(32364656_32365155)_(32365155_32380616)del c.(4845+1_4846-1)_(5025+1_5026-1)del - DMD_013535 - PubMed: Zeng 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 34i_35i c.(4739_4890)_(4890_5080)del r.? p.? - pathogenic (recessive) g.(32382773_32383272)_(32383272_32398733)del g.(32364656_32365155)_(32365155_32380616)del del ex35; c.(4845+1_4846-1)_(5025+1_5026-1)del - DMD_013535 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. 34i_35i c.(4739_4890)_(4890_5080)del r.? p.(del) - pathogenic (recessive) g.(32382773_32383272)_(32383272_32398733)del g.(32364656_32365155)_(32365155_32380616)del del ex35; c.(4845+1_4846-1)_(5025+1_5026-1)del - DMD_013535 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 34i_35i c.(4739_4890)_(4890_5080)del r.? p.? - pathogenic (recessive) g.(32382773_32383272)_(32383272_32398733)del g.(32364656_32365155)_(32365155_32380616)del del ex35 - DMD_013535 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
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