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.

5 entries on 1 page. Showing entries 1 - 5.
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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_4i c.(31+1_32-1)_(264+1_265-1)dup r.(32_264dup) p.? Unknown - pathogenic (recessive) g.(32841505_32862899)_(33038318_33229398)dup g.(32823388_32844782)_(33020201_33211281)dup g.33,026,750_32,761,250dup - DMD_060204 265.5 Kb duplication PubMed: Hegde 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: Hegde 2008 - M - - - - 0 - - 1 Johan den Dunnen
+/. 1i_4i c.(31+1_32-1)_(264+1_265-1)dup r.(32_264dup) p.? Unknown - pathogenic (recessive) g.(32841505_32862899)_(33038318_33229398)dup g.(32823388_32844782)_(33020201_33211281)dup g.33,026,750_32,761,250dup - DMD_060204 265.5 Kb duplication PubMed: Hegde 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: Hegde 2008 - M - - - - 0 - - 1 Johan den Dunnen
+/. 1i_4i c.(31+1_32-1)_(264+1_265-1)dup r.(32_264dup) p.? Unknown - pathogenic (recessive) g.(32841505_32862899)_(33038318_33229398)dup g.(32823388_32844782)_(33020201_33211281)dup g.33,013,846_32,761,242dup - DMD_060204 252.604 Kb duplication PubMed: Hegde 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: Hegde 2008 - M - - - - 0 - - 1 Johan den Dunnen
+/. 1i_4i c.(31+1_32-1)_(264+1_265-1)dup r.(32_264dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32841505_32862899)_(33038318_33229398)dup g.(32823388_32844782)_(33020201_33211281)dup dup2-4 - DMD_060204 - PubMed: Kalman 2011 - - Germline - - - 0 - DNA arraySNP, MLPA - - DMD - PubMed: Kalman 2011 - M - - - - 0 - - 1 Johan den Dunnen
+/. 1i_4i c.(31+1_32-1)_(264+1_265-1)dup r.[=,32_264dup] p.[=, Asn88_Val89insMetfs*15] Unknown - pathogenic (recessive) g.(32841505_32862899)_(33038318_33229398)dup g.(32823388_32844782)_(33020201_33211281)dup - - DMD_060204 RNA muscle, 2 transcripts 50% PubMed: Gualandi 2006 - - Germline - - - 0 - DNA, RNA PCRq, SEQ - - - - PubMed: Gualandi 2006 - M - (United Kingdom (Great Britain));(Italy) - - 0 - - 1 Johan den Dunnen
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