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.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA 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     
+/. _0_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357493_?)del g.(?_31119228)_(33339376_?)del del gene - DMD_010080 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_*2691{0} r.0? p.? - pathogenic (recessive) g.(30858832_30858882)_(35229274_35229324)del g.? del ex1-79 - DMD_038031 4370,4kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - 0 - Madhuri Hegde
+/. _0_79_ c.-244_*2691{0} r.0? p.? - pathogenic (recessive) g.(30858832_30858882)_(35229274_35229324)del g.? del ex1-79 - DMD_038032 4370,4kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - 0 - Madhuri Hegde
+/+ _0_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 deletion incl. IL1RAPL1 exon 7-11 (NM_014271.3:c.778+1_779-1del), NR0B1, GK PubMed: Zhang 2004 - - Unknown - - - 0 - Johan den Dunnen
+/+ _0_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del hg18 g.(?_31042316)_(33268716_?)del - DMD_050080 >2.3 Mb whole gene deletion PubMed: del Gaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del hg18 g.(?_31042316)_(33268716_?)del - DMD_050080 >2.3 Mb whole gene deletion PubMed: del Gaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_*2691{0} r.0? p.0? - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 whole gene deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del Dp427p; Dp427c - DMD_050080 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/+ _1_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(28606165_29935580)_(33229674_?)del - - - DMD_040080 deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(30000000_30322000)_(33229674_?)del - - - DMD_040081 deletion incl. NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(30328000_30670000)_(33229674_?)del - - - DMD_040082 deletion incl. GK and DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _0_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 - L Medne ASHG 2010 A1669 - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_*2691{0} r.0? p.0? - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 whole gene deletion - - - Germline - - - 0 - Mireille Claustres
+/+ _0_79_ c.-244_*2691{0} r.0? p.0? - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del - - DMD_050080 del ~4 Mb (L1+, J66-H1-, 754-, cX54+) PubMed: Chelly 1988, UMD 727 database - - Germline - - - 0 - Johan den Dunnen
+/. _1_79_ c.-244_*2691{0} r.0 p.0 - pathogenic (recessive) g.(?_29628158)_(35434714_?)del - del ex1-79 - DMD_010080 5.8Mb deletion incl. IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM47, FAM47B PubMed: Li 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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