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.

21 entries on 1 page. Showing entries 1 - 21.
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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     
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del c.(1992+1_1993-1)_(6290+1_6291-1)del - DMD_011743 - 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
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.(1993_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del c.(1992+1_1993-1)_(6290+1_6291-1)del - DMD_011743 - PubMed: Tuffery-Giraud 2009, UMD 2176 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2176 database - M - France - - - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.(1993_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del c.(1992+1_1993-1)_(6290+1_6291-1)del - DMD_011743 - PubMed: Tuffery-Giraud 2009, UMD 2192 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2192 database - M - France - - - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.(1993_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del c.(1992+1_1993-1)_(6290+1_6291-1)del - DMD_011743 - PubMed: Tuffery-Giraud 2009, UMD 2193 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2193 database - M - France - - - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del e17-43; c.(1992+1_1993-1)_(6290+1_6291-1)del - DMD_011743 - PubMed: Rani 2013, Journal: Rani 2013 - - Unknown - 1/35 cases - - - DNA MLPA - - DMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >6y - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17ex43, c.1993-?_6290+?del - DMD_011743 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - hCK - PubMed: Neri 2020, Journal: Neri 2020 - M - Morocco - - - - - 1 Alessandra Ferlini
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17ex43, c.1993-?_6290+?del - DMD_011743 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - hCK - PubMed: Neri 2020, Journal: Neri 2020 - F - Morocco - - - - - 1 Alessandra Ferlini
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del ex17ex43del, c.1993-?_6290+?del - DMD_011743 - 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
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - 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
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1278 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
./. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - PubMed: Iskandar 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD NSA PubMed: Iskandar 2022 - M - Indonesia - - - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - PubMed: Dwianingsih 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD dmd8 PubMed: Dwianingsih 2023 - M - Indonesia - - - - - 1 Rusdy Ghazali Malueka
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.(del) p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - PubMed: Basiri 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Basiri 2023 - M - Iran - - - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.(del) p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - PubMed: Basiri 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Basiri 2023 - M - Iran - - - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 16i_43i c.(1851_2084)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32563360_32583960)del g.(32216973_32287624)_(32545243_32565843)del del ex17-43 - DMD_011743 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
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