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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.? - pathogenic (recessive) g.(32717411_32827609)_(33357726_?)dup g.(32699294_32809492)_(33339609_?)dup dup ex1-7 - DMD_060107 - PubMed: Xiao 2021 - - Germline/De novo (untested) - 1/10486 cases NICU - 0 - Johan den Dunnen
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.? - pathogenic (recessive) g.(32717411_32827609)_(33357726_?)dup g.(32699294_32809492)_(33339609_?)dup dup ex1-7 - DMD_060107 - PubMed: Xiao 2021 - - Germline/De novo (untested) - 1/10486 cases NICU - 0 - Johan den Dunnen
?/. 0i_7i c.-244_(649+1_650-1){2} r.? p.? - VUS g.(32717411_32827609)_(33229674_33357375)dup g.(32699294_32809492)_(33211557_33339258)dup - - DMD_060107 extra copy exons 1m-7 DMD gene email request - - Germline - - - 0 - Johan den Dunnen
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