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     
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.(6763_7542del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del c.(6762+1_6763-1)_(7542+1_7543-1)del - DMD_014751 - PubMed: Tuffery-Giraud 2009, UMD 2632 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2632 database - M - France - - - - - 1 Johan den Dunnen
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.(6763_7542del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del c.(6762+1_6763-1)_(7542+1_7543-1)del - DMD_014751 - PubMed: Tuffery-Giraud 2009, UMD 1817 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1817 database - M - France - - - - - 1 Johan den Dunnen
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.(6763_7542del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del c.(6762+1_6763-1)_(7542+1_7543-1)del - DMD_014751 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 3037 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 3037 database - M - France - - - - - 1 Johan den Dunnen
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.(6763_7542del) p.(del?) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del c.(6762+1_6763-1)_(7542+1_7543-1)del - DMD_014751 de novo, in patient PubMed: Lo 2006 - - De novo - - - - - DNA MLPA, PCRm - - DMD - PubMed: Lo 2006 non-carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.(6763_7542del) p.(fs*?) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del c.(6762+1_6763-1)_(7542+1_7543-1)del - DMD_014751 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.(6763_7542del) p.(fs*?) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del c.(6762+1_6763-1)_(7542+1_7543-1)del - DMD_014751 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.(6763_7542del) p.(fs*?) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del c.(6762+1_6763-1)_(7542+1_7543-1)del - DMD_014751 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del del ex47-51 - DMD_014751 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0001 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del del ex47-51, c.6763-?_7542+?del - DMD_014751 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat28 PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients M - Serbia - - - - - 1 Johan den Dunnen
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del del ex47-51 - DMD_014751 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 46i_51i c.(6705_6809)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31947816_31950254)del g.(31729663_31774080)_(31929699_31932137)del del ex47-51 - DMD_014751 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.(6913_7542del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del c.(6912+1_6913-1)_(7542+1_7543-1)del - DMD_014751 - - - - Germline - - - - - DNA MLPA - - MD #323 PubMed: Luce 2018 adopted, dizygotic twin sister without symptoms F no Argentina - - - - - 1 Florencia Giliberto
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48ex51, c.6913-?_7542+?del - DMD_014751 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48ex51, c.6913-?_7542+?del - DMD_014751 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 47i_51i c.(6809_7017)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del g.(31729663_31774080)_(31875269_31929699)del del ex48ex51, c.6913-?_7542+?del - DMD_014751 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 46i_51i c.(6809_7017)_(7422_7628)del r.(?) p.? Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31893386_31947816)del - - - DMD_014751 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #444 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
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