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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
?/. _1 c.-342G>A VUS r.(?) p.(=) g.33229771C>T - - - DMD_046369 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. _1 c.-342G>A VUS r.(?) p.(=) g.33229771C>T - - - DMD_046369 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
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