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.

11 entries on 1 page. Showing entries 1 - 11.
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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     
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 in paper as del ex44-47 PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >7y - - medication steroids; no ventilator; no surgery contractures 1 Manuel F. Mas Rodriguez
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.(6291_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 - PubMed: Tuffery-Giraud 2009, UMD 2011 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2011 database - M - France - - - - - 1 Johan den Dunnen
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.(6291_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 78 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 78 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.(6291_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 - PubMed: Tuffery-Giraud 2009, UMD 1170 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1170 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.(6291_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.(6291_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 - - - - Germline - - - - - DNA MLPA, PCRm, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del del ex44-52; c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat75 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.? p.? Unknown - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del del ex44-52; c.(6290+1_6291-1)_(7660+1_7661-1)del - DMD_014452 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - - - - 1 Johan den Dunnen
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.? p.? Unknown - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del del ex44-52 - DMD_014452 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.? p.fs Unknown - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del del ex44-52 - DMD_014452 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 43i_52i c.(6195_6381)_(7628_7786)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31697578_31747780)_(32235090_32305741)del g.(31679461_31729663)_(32216973_32287624)del del ex44-52 - DMD_014452 - PubMed: Trivedi 2025 - - Germline/De novo (untested) - - - - - DNA PCRm - - BMD/DMD - PubMed: Trivedi 2025 patient M - India - - - - - 1 Sindhav Gaurang
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