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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.? p.(fs*) Unknown g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del del Dp427c-ex44; c.-244_(6438+1_6439-1)del - DMD_010044 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D413 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.0 p.0 Parent #1 g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Piko 2009 - ? - Hungary - - 0 - - 1 Johan den Dunnen
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.0 p.0 Unknown g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c - - - Germline - - - 0 - DNA MAPH, PCRm - - DMD - - - M - Turkey - - 0 - - 2 Ayfer Ulgenalp
+?/. _0_44i c.-244_(6382_6538)del likely pathogenic r.0? p.0? Maternal (confirmed) g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del c.-244_(6438+1_6439-1)del - DMD_010044 - - - - Germline - - - 0 - DNA MLPA peripheral blood - BMD/DMD - - - M - Peru - 04y 0 - - 1 Martin Cruz
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