All transcript variants in 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.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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_44i c.-244_(6382_6538)del pathogenic (recessive) r.? p.(fs*) g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del del Dp427c-ex44; c.-244_(6438+1_6439-1)del - DMD_010044 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.0 p.0 g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.0 p.0 g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c - - - Germline - - - 0 - Ayfer Ulgenalp
+?/. _0_44i c.-244_(6382_6538)del likely pathogenic r.0? p.0? g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del c.-244_(6438+1_6439-1)del - DMD_010044 - - - - Germline - - - 0 - Martin Cruz
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