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.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del c.(1331+1_1332-1)_(2380+1_2381-1)del - DMD_011219 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >15y - - no medication; mechanical ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.(del) p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del c.(1331+1_1332-1)_(2380+1_2381-1)del - DMD_011219 - - - - Germline - - - - - DNA MLPA, PCRm - - DMD #60 - - - - Argentina - - - - - 1 Florencia Giliberto
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19; c.(1331+1_1332-1)_(2380+1_2381-1)del - DMD_011219 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D362 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19; c.(1331+1_1332-1)_(2380+1_2381-1)del - DMD_011219 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D363 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 - PubMed: Garcia-Planells 2009 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Garcia-Planells 2009 patient, carrier mother M - Spain - - - - - 1 Johan den Dunnen
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 - PubMed: Garcia 2014 - - Germline - - - - - DNA MLPA - - BMD/DMD ? PubMed: Garcia 2014 2-generation family, 1 affected, carrier mother M - Spain - - - - - 1 Johan den Dunnen
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.fs Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 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
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12- 19, 1332-?_2380+?del - DMD_011219 - PubMed: Tyagi 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat59 PubMed: Tyagi 2019 - M - India - - - - - 1 Johan den Dunnen
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - 15y-Xi ratio blood 66:34 DNA MLPA - - BMD/DMD Pat32 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 - PubMed: Liu 2023 - - Germline - - - - 56y-Xi ratio blood 73:27 DNA MLPA - - BMD/DMD Pat36 PubMed: Liu 2023 femle, brother DMD, 2 nephews DMD F - China - - - - - 1 Johan den Dunnen
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 2/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 11i_19i c.(1174_1384)_(2293-10_2442)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(32509574_32519969)_(32632518_32662406)del g.(32491457_32501852)_(32614401_32644289)del del ex12-19 - DMD_011219 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 2/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
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