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     
+/. 2i_41i c.(58_127)_(5811_5951)del r.(94_5922del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del c.(93+1_94-1)_(5922+1_5923-1)del - DMD_010341 - PubMed: Tuffery-Giraud 2009, UMD 1822 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1822 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.(del) Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41; c.(93+1_94-1)_(5922+1_5923-1)del - DMD_010341 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D69 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.(del) Maternal (confirmed) - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - PubMed: Luce 2016, Journal: Luce 2016 - - Germline - - - - - DNA MLPA - - BMD/DMD #165 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 family, 2 affected sibs, #165 M - Argentina - - - - - 2 Florencia Giliberto
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.(del) Maternal (confirmed) - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - PubMed: Luce 2016, Journal: Luce 2016 - - Germline - - - - - DNA MLPA - - BMD/DMD #166 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 brother #165 M - Argentina - - - - - 1 Florencia Giliberto
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0188 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.(del) Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - 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_41i c.(58_127)_(5811_5951)del r.? p.(del) Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - 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_41i c.(58_127)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 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_41i c.(58_127)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 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_41i c.(58_127)_(5811_5951)del r.(?) p.? Maternal (inferred) - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del - - - DMD_010341 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #704 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.(del) Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - 29-gene panel MD P55 PubMed: Patel 2021 patient M - India India-W - - - - 1 Johan den Dunnen
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - 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_41i c.(58_127)_(5811_5951)del r.? p.fs? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.? Unknown ACMG pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41, c.94-?_5922+?del - DMD_010341 ACMG PS4, PM1, PM2, PM4 - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Teodora Barbarii
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.? Unknown ACMG pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41, c.94-?_5922+?del - DMD_010341 ACMG PS4, PM1, PM2, PM4 - - - Germline - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Teodora Barbarii
+/. 2i_41i c.(58_127)_(5811_5951)del r.? p.? Unknown - pathogenic (recessive) g.(32328365_32360328)_(32867904_33038291)del g.(32310248_32342211)_(32849787_33020174)del del ex3-41 - DMD_010341 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #864 PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
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