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.

16 entries on 1 page. Showing entries 1 - 16.
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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     
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del del 10-43; c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case3 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.(961_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Tuffery-Giraud 2009, UMD 60 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 60 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.(961_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Tuffery-Giraud 2009, UMD 2682 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2682 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.(961_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Tuffery-Giraud 2009, UMD 156 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 156 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.(961_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Tuffery-Giraud 2009, UMD 192 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 192 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.(961_6290del) p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.(961_6290del) p.(del) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 9i_43i c.(858_987)_(6195_6381)del r.(961_6290del) p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del del ex10-43; c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat6 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del del ex10-43; c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat7 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del del ex10-43; c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat8 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del del ex10-43; c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - 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
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del del ex10-43; c.(960+1_961-1)_(6290+1_6291-1)del - DMD_011043 - PubMed: Polavarapu 2019 - - Germline yes - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, family, several affected M - India - - - - - 1 Johan den Dunnen
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del ex10ex43del, c.961-?_6290+?del - DMD_011043 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del ex10ex43del, c.961-?_6290+?delĀ  - DMD_011043 - 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
+/. 9i_43i c.(858_987)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32663243_32716089)del g.(32216973_32287624)_(32645126_32697972)del del ex10-43 - DMD_011043 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
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