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.

35 entries on 1 page. Showing entries 1 - 35.
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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     
+/. 2i_17i c.(58_127)_(2084_2225)del r.(94_2168del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - PubMed: Tuffery-Giraud 2009, UMD 2603 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2603 database - M - Algeria - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.(94_2168del) p.(?) Maternal (confirmed) - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - PubMed: Lo 2006 - - Germline - - - - - DNA MLPA, PCRm - - MD - PubMed: Lo 2006 carrier mother M - China - - - - - 2 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.(e3-e17del) p.del? Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del e3-e17; c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >3y - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.(94_2168del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_17i c.(58_127)_(2084_2225)del r.(94_2168del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_17i c.(58_127)_(2084_2225)del r.(94_2168del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_17i c.(58_127)_(2084_2225)del r.(94_2168del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_17i c.(58_127)_(2084_2225)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del ex3ex17del; c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Albania - - - - - 1 Alessandra Ferlini
+/. 2i_17i c.(58_127)_(2084_2225)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del ex3ex17del; c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_17i c.(58_127)_(2084_2225)del r.(94_2168del) p.(fs) Maternal (confirmed) - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Yugoslavia - - - - - 1 Jovan Pesović
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17; c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat14 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17; c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17; c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17; c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - 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
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17; c.(93+1_94-1)_(2168+1_2169-1)del - DMD_010317 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D762 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del ex3-17del - DMD_010317 - PubMed: Yang 2019 - - De novo - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P56 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del ex3ex17del, c.94-?_2168+?del - DMD_010317 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD8929 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0103 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0133 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0187 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Mah 2011 - - Germline/De novo (untested) - 3/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Tian 2019 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD Pat18 PubMed: Tian 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17, c.94-?_2168+?del - DMD_010317 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat04 PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients M - Serbia - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Garcia-Planells 2009 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Garcia-Planells 2009 patient, carrier mother M - Spain - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Garcia 2014 - - Germline - - - - - DNA MLPA - - BMD/DMD ? PubMed: Garcia 2014 2-generation family, 1 affected, carrier mother M - Spain - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Mah 2011 - - Germline/De novo (untested) - 3/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Mah 2011 - - Germline/De novo (untested) - 3/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 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_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Megarbane 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Megarbane 2021 - - - Lebanon - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Megarbane 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Megarbane 2021 - - - Lebanon - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Iskandar 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD AAZ PubMed: Iskandar 2022 - M - Indonesia - - - - - 1 Johan den Dunnen
+/. 2i_17i c.(58_127)_(2084_2225)del r.? p.? Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - 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_17i c.(58_127)_(2084_2225)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(32536192_32563360)_(32867904_33038291)del g.(32518075_32545243)_(32849787_33020174)del del ex3-17 - DMD_010317 - PubMed: Dwianingsih 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD dmd51 PubMed: Dwianingsih 2023 - M - Indonesia - - - - - 1 Rusdy Ghazali Malueka
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