All variants in the DMD gene

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.

7 entries on 1 page. Showing entries 1 - 7.
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Effect

Exon

DNA change (cDNA)

RNA change

Protein

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

Owner
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*) - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*) - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.0? p.0? - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del ex1ex79del, c.-244_*2691delĀ  - DMD_010179 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Carmela Scuderi
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.? - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del - - DMD_018079 - PubMed: Luce 2021 - - Unknown - - - 0 - Florencia Giliberto
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.? - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del - - DMD_018079 - PubMed: Luce 2021 - - Germline - - - 0 - Florencia Giliberto
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.? - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del - - DMD_018079 - PubMed: Luce 2021 - - Unknown - - - 0 - Florencia Giliberto
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.? - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del - - DMD_018079 - PubMed: Luce 2021 - - Germline - - - 0 - Florencia Giliberto
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