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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - del 8-10,21-26 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat20 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - dup 3-10,21-29 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat24 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - dup 2-4; del 64 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat25 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - dup 45; del 8-10,21-30,41 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat26 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. 20 c.? r.(?) p.? Unknown - pathogenic (recessive) g.? - 2518G>T (Gln840*) - DMD_000000 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BMD/DMD Pat180 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 67 c.? r.(?) p.? Maternal (confirmed) - pathogenic (recessive) g.? - 9669C>T (Arg3223*Ter) - DMD_000000 - PubMed: Yang 2019 - - Germline - 1/100 cases BMD/DMD - 0 - DNA MLPA, SEQ - - BMD/DMD P88 PubMed: Yang 2019 - M - China - - 0 - - 1 Johan den Dunnen
+/. 21 c.? r.(?) p.? Unknown - pathogenic (recessive) g.? - 2664C>T (Gln888Ter) - DMD_000000 - PubMed: Yang 2019 - - De novo - 1/100 cases BMD/DMD - 0 - DNA MLPA, SEQ - - BMD/DMD P89 PubMed: Yang 2019 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? - - Maternal (confirmed) - pathogenic (recessive) g.? g.? - - DMD_000000 non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75 - - - Germline - - - 0 - DNA MLPA Nil - DMD MDCRC/3473/DBI-2651 - - M no India Indian 17y 0 yes - 1 Lakshmi Bremadesam
?/. 62i c.? r.(=) p.(=) Unknown - VUS g.? - g.-31285223_31285208dupTTCTTTCTTTCTTTCT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-1081T>C - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-955A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-807A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-583dupA - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-451A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-419A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-342G>A - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-181A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 1 c.? r.? p.? Unknown - benign g.? - NM_004006.2:g.-114dupT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-29dupT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 1 c.? r.? p.? Unknown - benign g.? - NM_004006.2:g.-8T>A - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.32G>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.99A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.323A>C - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - DNA SEQ - - DMD - - - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2i_8i c.? r.? p.? Maternal (inferred) - pathogenic (recessive) g.? - del ex3, 6, 8 - DMD_000000 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
?/. 2 c.77A>G r.(?) p.(Asn26Ser) Maternal (confirmed) - VUS g.33038272T>C - Asn26* - DMD_000000 description corrected after contact with authors PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat123 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
-?/. 2i c.(93+1_94-1)del r.(=) p.(=) Maternal (inferred) - likely benign g.(32867938_33038255)del g.32849821_33020138del - - DMD_000000 deletion detected using BAC ESHG2010, Kitsiou-Tzeli P12.058 - - Germline - - - 0 - DNA arrayCGH - - DMD - ESHG2010, Kitsiou-Tzeli P12.058 - M - Greece - - 0 - - 1 Johan den Dunnen
-/. 2i_7i c.649_650= r.649_650= p.Asp217= Maternal (inferred) - benign g.(32717410_32827610=) - - - DMD_000000 deletion of duplicated segment (ex3-7), 25% normal dystrophin PubMed: Punetha 2016 - - Somatic - - - 0 - DNA, RNA arrayCGH, RT-PCR, SEQ - - BMD/DMD FamPatIII1 PubMed: Punetha 2016 patient III1 M no United States - - 0 - - 1 Jaya Punetha
-/. 48 c.7096= r.(?) p.(Gln2366=) Maternal (confirmed) - benign g.31893307T>G - - - DMD_000000 - PubMed: Zhu 2016 - - Germline - - - 0 - DNA SEQ - capture sequencing - 27421007-Pat1 PubMed: Zhu 2016 3-generation family, 1 affected, unaffected heterozygous carrier mother/maternal grandmother M - China - - 0 - - 1 Johan den Dunnen
-/. - c.7096A>C r.(?) p.(Lys2366Gln) Unknown - benign g.31893307T>G - DMD(NM_004006.2):c.7096A>C (p.K2366Q) - DMD_000000 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 55i_62i c.[IL1RAPL1ins; (8217+1_8218-1)_(9224+1_9225-1)dup] r.[9224_9225ins612; 8218_9224dup] p.? Parent #1 - pathogenic (recessive) g.? - - - DMD_000000 duplication exons 56-62, preceded by IL1RAPL1 insertion; on RNA ins612 = IL1RAPL1:exons3-5 Zhang ASHG2008 P644 - - Germline - - - 0 - DNA, RNA MLPA, RT-PCR, SEQ - - DMD - Zhang ASHG2008 P644 - M - - - >8y 0 - - 1 Johan den Dunnen
+/. 58 c.8608C>T r.(?) p.(Arg2870*) Unknown - pathogenic (recessive) g.31497160G>A g.31479043G>A 8668C>T (R2870X) - DMD_000000 detected as MLPA deletion PubMed: Kerr 2013 - - Germline - - - 0 - DNA MCA, SEQ - - DMD - PubMed: Kerr 2013 - M - South Africa white - 0 - - 1 Johan den Dunnen
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