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.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 12i_29i c.(1482+1_1483-1)_(4071+1_4072-1)del pathogenic (recessive) r.(del) p.(del) Maternal (inferred) g.(32430031_32456357)_(32613994_32632419)del g.(32411914_32438240)_(32595877_32614302)del - - DMD_051329 - PubMed: Romero 1997 - - Germline yes - - 0 - DNA PCRm - - ?, GKD - PubMed: Romero 1997 uncle of 09447607-III.5 M - France - - 0 - - 1 Johan den Dunnen
+/+ 12i_29i c.(1482+1_1483-1)_(4071+1_4072-1)del pathogenic (recessive) r.(del) p.(del) Maternal (confirmed) g.(32430031_32456357)_(32613994_32632419)del g.(32411914_32438240)_(32595877_32614302)del - - DMD_051329 - PubMed: Romero 1997 - - Germline yes - - 0 - DNA PCRm - - ?, GKD - PubMed: Romero 1997 half-brother of 09447607-III.5, 6; carrier mother M - France - - 0 - - 1 Johan den Dunnen
+/+ 12i_29i c.(1482+1_1483-1)_(4071+1_4072-1)del pathogenic (recessive) r.(del) p.(del) Maternal (confirmed) g.(32430031_32456357)_(32613994_32632419)del g.(32411914_32438240)_(32595877_32614302)del - - DMD_051329 - PubMed: Romero 1997 - - Germline yes - - 0 - DNA PCRm, Southern - - ?, GKD - PubMed: Romero 1997 3-generation family, brother of III.5; carrier mother M - France - - 0 - - 5 Johan den Dunnen
+/+ 12i_29i c.(1482+1_1483-1)_(4071+1_4072-1)del pathogenic (recessive) r.(del) p.(del) Maternal (confirmed) g.(32430031_32456357)_(32613994_32632419)del g.(32411914_32438240)_(32595877_32614302)del - - DMD_051329 - PubMed: Romero 1997, UMD 450 database - - Germline yes - - 0 - DNA PCRm, Southern - - GKD - PubMed: Romero 1997, UMD 450 database 3-generation family; carrier mother M no France - - 0 - - 1 Johan den Dunnen
+/. 12i_29i c.(1482+1_1483-1)_(4071+1_4072-1)del pathogenic (recessive) r.(1483_4071del) p.(del) Maternal (confirmed) g.(32430031_32456357)_(32613994_32632419)del g.(32411914_32438240)_(32595877_32614302)del - - DMD_051329 - PubMed: Romero 1997 - - Germline - - - 0 - DNA PCRm - - BMD, GKD - PubMed: Romero 1997 nephew of 09447607-III.5; carrier mother M - France - - 0 - - 2 Johan den Dunnen
+/. 12i_29i c.(1482+1_1483-1)_(4071+1_4072-1)del pathogenic (recessive) r.1483_4071del p.Val495_Glu1357del Maternal (inferred) g.(32430031_32456357)_(32613994_32632419)del g.(32411914_32438240)_(32595877_32614302)del - - DMD_051329 RNA muscle, level 60-70% normal PubMed: Sedlackova 2009 - - Germline - - - 0 - DNA, RNA PTT, SEQ - - BMD - PubMed: Sedlackova 2009 - M - Czech Republic - - 0 - - 1 Jana Sedlackova
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