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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 1i c.32-2A>T r.32_93del p.Tyr11Phefs*6 Unknown - pathogenic (recessive) g.33038319T>A g.33020202T>A - - DMD_000291 RNA muscle PubMed: Hamed 2005 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - BMD - PubMed: Hamed 2005 - M - United States - - 0 - - 1 Sherifa Hamed
+/. 1i c.32-2A>T r.spl p.? Unknown - pathogenic (recessive) g.33038319T>A g.33020202T>A - - DMD_000291 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
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