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     
+/. 44i_51i c.(6381_6537)_(7422_7628)dup r.(e45-e51dup) p.(dup) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup e45-e51; c.(6438+1_6439-1)_(7542+1_7543-1)dup - DMD_024551 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >20y - - - 1 Johan den Dunnen
+/. 44i_51i c.(6381_6537)_(7422_7628)dup r.(6439_7542dup) p.(dup) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup c.(6438+1_6439-1)_(7542+1_7543-1)dup - DMD_024551 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 44i_51i c.(6381_6537)_(7422_7628)dup r.(6439_7542dup) p.(dup?) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup c.(6438+1_6439-1)_(7542+1_7543-1)dup - DMD_024551 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 44i_51i c.(6381_6537)_(7422_7628)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup ex45-51; c.(6438+1_6439-1)_(7542+1_7543-1)dup - DMD_024551 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 44i_51i c.(6381_6537)_(7422_7628)dup r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup ex45-51; c.(6438+1_6439-1)_(7542+1_7543-1)dup - DMD_024551 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D801 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 44i_51i c.(6381_6537)_(7422_7628)dup r.? p.(dup) Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup ex45-51 - DMD_024551 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1500 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 44i_51i c.(6381_6537)_(7422_7628)dup r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup ex45-51 - DMD_024551 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_51i c.(6381_6537)_(7422_7628)dup r.? - Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup ex2-7 and 45-51 - DMD_024551 non-contiguous duplication ex2-7 and 45-51 PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - DMD Pat139 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
?/. 44i_51i c.(6381_6537)_(7422_7628)dup r.? p.? Parent #2 ACMG VUS g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup ex45-51 - DMD_024551 - PubMed: Reiner 2022 - - Germline - 1/16,467 controls - - - DNA MLPA, SEQ, SEQ-NG - custom gene panel Healthy/Control DMD-12 PubMed: Reiner 2022 carrier screening 73,755 controls F - United States - - - - - 1 Johan den Dunnen
+/. 44i_51i c.(6381_6537)_(7422_7628)dup r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup ex45-51 - DMD_024551 - 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_51i c.(6381_6537)_(7422_7628)dup r.? p.? Maternal (confirmed) - likely benign g.(31747780_31792197)_(31986533_32235090)dup g.(31729663_31774080)_(31968416_32216973)dup dup ex45-51 arr[GRCh37] Xp21.1(31,756,290-32,190,220)x3 DMD_024551 asymptomatic uncle carries duplication PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - - Germline - - - - - DNA arrayCGH, MLPA - - ? Pat28 PubMed: Ginjaar 2025, Journal: Ginjaar 2025 fetus F - - - - - - - 2 Hermine van Duyvenvoorde
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