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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/. 71 c.10231dup r.[10231dup,10224_10262del] p.[Thr3411Asnfs*22, Pro3409_Ala3421del] Parent #1 - pathogenic (recessive) g.31196080dup g.31177963dup 10231dupA - DMD_001672 - PubMed: Deburgrave 2007, PubMed: Daoud 2009, UMD 2733 database - - Germline - - BclI-;DpnI-;DpnII-;MaeIII-;MboI-;Sau3AI- - - DNA, RNA RT-PCR, SEQ - - BMD - PubMed: Daoud 2009 affected uncle M - France - - - - - 2 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
+/. 71 c.10231dup r.(?) p.(Thr3411Asnfs*22) Unknown - pathogenic (recessive) g.31196080dup g.31177963dup 10231dupA - DMD_001672 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - BMD Pat351 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 71 c.10231dup r.(?) p.(Thr3411Asnfs*22) Unknown - pathogenic (recessive) g.31196080dup g.31177963dup 10231dupA - DMD_001672 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - BMD Pat352 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 71 c.10231dup r.(?) p.(Thr3411Asnfs*22) Parent #1 - pathogenic (recessive) g.31196080dup g.31177963dup 10231dupA - DMD_001672 - - - - Germline - - - - - DNA SEQ - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 71 c.10231dup r.(?) p.(Thr3411Asnfs*22) Maternal (confirmed) - pathogenic (recessive) g.31196080dup g.31177963dup 10231dupA - DMD_001672 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ-NG - - BMD/DMD Pat99 PubMed: Wang 2019 carrier mother M - China Han - - - - 1 Johan den Dunnen
+/. 71 c.10231dup r.(?) p.(Thr3411Asnfs*22) Unknown - pathogenic (recessive) g.31196080dup g.31177963dup c.10231insA - DMD_001672 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 71 c.10231dup r.(?) p.(Thr3411Asnfs*22) Unknown - pathogenic (recessive) g.31196080dup g.31177963dup c.10231dupA - DMD_001672 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 71 c.10231dup r.(?) p.(Thr3411Asnfs*22) Unknown - pathogenic (recessive) g.31196080dup g.31177963dup c.10231_10232insA - DMD_001672 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
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