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     
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.(4072_6290del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del c.(4071+1_4072-1)_(6290+1_6291-1)del - DMD_013043 - PubMed: Tuffery-Giraud 2009, UMD 2866 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2866 database symptomatic DMD carrier F - (France) - - - - - 1 Johan den Dunnen
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.(4072_6290del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del c.(4071+1_4072-1)_(6290+1_6291-1)del - DMD_013043 - PubMed: Tuffery-Giraud 2009, UMD 2166 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2166 database - M - France - - - - - 1 Johan den Dunnen
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.(e30-e43del) p.fs Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del e30-e43; c.(4071+1_4072-1)_(6290+1_6291-1)del - DMD_013043 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.(4072_6290del) p.? Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del c.(4071+1_4072-1)_(6290+1_6291-1)del - DMD_013043 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.(4072_6290del) p.? Parent #1 - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del c.(4071+1_4072-1)_(6290+1_6291-1)del - DMD_013043 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43; c.(4071+1_4072-1)_(6290+1_6291-1)del - DMD_013043 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30ex43, c.4072-?_6290+?del - DMD_013043 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del ex30ex43del, c.3163-?_3276+?delĀ  - DMD_013043 - 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
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43 - DMD_013043 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43 - DMD_013043 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
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43 - DMD_013043 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43 - DMD_013043 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43 - DMD_013043 - 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
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43 - DMD_013043 - PubMed: Sagi-Dain 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, no family history M - Israel - - - - - 1 Johan den Dunnen
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43 - DMD_013043 - PubMed: Sagi-Dain 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, family history M - Israel - - - - - 1 Johan den Dunnen
+/. 29i_43i c.(3990_4193)_(6195_6381)del r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(32429909_32456439)del g.(32216973_32287624)_(32411792_32438322)del del ex30-43 - DMD_013043 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #420 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
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