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.

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

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     
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del c.(93+1_94-1)_(2380+1_2381-1)del - DMD_010319 - 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
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.(94_2380del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del c.(93+1_94-1)_(2380+1_2381-1)del - DMD_010319 - PubMed: Tuffery-Giraud 2009, UMD 164 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 164 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.(94_2380del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del c.(93+1_94-1)_(2380+1_2381-1)del - DMD_010319 - PubMed: Tuffery-Giraud 2009, UMD 2932 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2932 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.(94_2380del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del c.(93+1_94-1)_(2380+1_2381-1)del - DMD_010319 - PubMed: Tuffery-Giraud 2009, UMD 1916 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1916 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.(94_2380del) p.(?) Parent #1 - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del c.(93+1_94-1)_(2380+1_2381-1)del - DMD_010319 de novo, in patient PubMed: Lo 2006 - - De novo - - - - - DNA MLPA, PCRm - - BMD - PubMed: Lo 2006 non-carrier mother F - China - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.(94_2380del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del c.(93+1_94-1)_(2380+1_2381-1)del - DMD_010319 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19; c.(93+1_94-1)_(2380+1_2381-1)del - DMD_010319 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D633 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - 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
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 2/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 2/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.fs Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 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
./. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - 29-gene panel MD P44 PubMed: Patel 2021 patient M - India India-W - - - - 1 Johan den Dunnen
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 2i_19i c.(58_127)_(2293-10_2442)del r.? p.? Unknown - pathogenic (recessive) g.(32509574_32519969)_(32867904_33038291)del g.(32491457_32501852)_(32849787_33020174)del del ex3-19 - DMD_010319 - PubMed: Liu 2023 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat94 PubMed: Liu 2023 female, son with BMD F - China - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.