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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)dup - DMD_024554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D853 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54; c.(6438+1_6439-1)_(8027+1_8028-1)dup - DMD_024554 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D854 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54 - DMD_024554 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54 - DMD_024554 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD dup PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54 - DMD_024554 - PubMed: Wang 2019 - - Germline/De novo (untested) - 1/70 cases - - - DNA MLPA, SEQ - - BMD/DMD P51 PubMed: Wang 2019 analysis 70 unrelated MD families M - China - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54 - DMD_024554 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54 - DMD_024554 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54; c.6439-?_8027+?dup - DMD_024554 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - DNA MLPA - - DMD DMD-237 PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 analysis 152 BMD/DMD cases M - Peru - - - - - 1 Maria Luisa Guevara Gil
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54 - DMD_024554 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 44i_54i c.(6381_6537)_(7908_8068)dup r.? p.? Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31986533_32235090)dup g.(31627822_31658109)_(31968416_32216973)dup dup ex45-54 and 63-79 arr[NCBI 36] Xp21.1(31,571,710-32,113,942)x3, Xp21.2 (30,770,247-31,571,710)x3 (hg 18) DMD_024554 542 kb gain at Xp21.1, 419 kb gain at Xp21.2; non-contiguous duplication exons 45-54 and 63-79; FISH confirms interstitial duplication at DMD gene Ginjaar 2024, submitted - - De novo - - - - normal X-inactivation pattern DNA arrayCGH, MLPA, FISH - - ? Ind29 Ginjaar 2024, submitted - F - - - - - - - 1 Hermine van Duyvenvoorde
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