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.

87 entries on 1 page. Showing entries 1 - 87.
Legend   How to query  

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     
+/. 70 c.(10108C>T) r.10108c>u p.Arg3370* Maternal (confirmed) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 RNA muscle, transcript level 5-35% normal PubMed: Sedlackova 2009 - - Germline - - - - - RNA PTT, SEQ - - DMD - PubMed: Sedlackova 2009 - M - Czech Republic - - - - - 1 Jana Zidkova
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Luce 2018 - - Unknown - - - - - DNA SEQ-NG-I Blood WES DMD #437 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 70 c.10108C>T r.10108c>u p.Arg3370* Maternal (confirmed) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Hofstra - - Germline - - TaqI- - - DNA, RNA PTT, DGGE - - DMD - PubMed: Hofstra carrier mother F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (confirmed) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Hofstra - - Germline - - - - - DNA DGGE - - DMD - PubMed: Hofstra carrier mother F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 70 c.10108C>T r.10108c>u p.Arg3370* Maternal (confirmed) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 RNA muscle; de novo, in mother (grandpaternal allele) PubMed: Tuffery-Giraud, UMD 1440 database - - Germline - - TaqI-;XmnI- - - DNA, RNA RT-PCR - - DMD - PubMed: Tuffery-Giraud, UMD 1440 database - M - France - - - - - 1 Mireille Claustres
+/. 70 c.10108C>T r.10108c>u p.Arg3370* Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A 10316C>T - DMD_000007 - PubMed: Roberts 1992, OMIM:var0007 - rs3082164 Germline - - TaqI- - - DNA, RNA RT-PCR, CMC - - DMD - PubMed: Roberts 1992 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Buzin 2005 - - Germline - - - - - DNA DOVAM - - DMD - PubMed: Buzin 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.10108c>u p.Arg3370* Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Deburgrave 2007, PubMed: Daoud 2009, UMD 657 database - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMD - PubMed: Deburgrave 2007, PubMed: Daoud 2009, UMD 657 database - M - France - - - - - 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Spitali 2009 - - Germline - - - - - DNA SEQ - - DMD 19760747-Pat50 PubMed: Spitali 2009 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - UMD 2602 database - - Germline - - TaqI-;XmnI- - - DNA SEQ - - DMD - UMD 2602 database - F - France - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - UMD 2909 database - - Germline - - TaqI-;XmnI- - - DNA SEQ - - DMD - UMD 2909 database - F - (France) - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (inferred) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - UMD 2859 database - - Germline - - TaqI-;XmnI- - - DNA SEQ - - DMD - UMD 2859 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Flanigan 2009 - - Germline - - TaqI- - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 DMD carrier female F - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Flanigan 2009 - - Germline - - TaqI- - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Flanigan 2009 - - Germline - - TaqI- - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Flanigan 2009 - - Germline - - TaqI- - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Flanigan 2009 - - Germline - - TaqI- - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10108C>T r.10108c>u p.Arg3370* Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Takeshima 2010 - - Germline - - - - - DNA, RNA SEQ - - DMD - PubMed: Takeshima 2010 - M - Japan - - - - - 1 Masafumi Matsuo
+/. 70 c.10108C>T r.10108c>u p.Arg3370* Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Takeshima 2010 - - Germline - - - - - DNA, RNA SEQ - - DMD - PubMed: Takeshima 2010 - M - Japan - - - - - 1 Masafumi Matsuo
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Taylor 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Sarah Lang
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Flanigan 2009 - - Germline - - TaqI- - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - - - - Germline - - - - - DNA CSCE - - DMD - - - M - United Kingdom (Great Britain) - - - - - 1 Emma Ashton
+/. 70 c.10108C>T r.10108c>u p.Arg3370* Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - - - - Germline - - TaqI- - - DNA, RNA SEQ - - DMD - - - M - United States - - - - - 1 Peter Kang
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat332 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat333 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (inferred) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - MD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (inferred) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Guo 2015 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD MD0154 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (inferred) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Guo 2015 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD MD7655 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (inferred) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Magri 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD PatXXX PubMed: Magri 2011 - M - Italy - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (inferred) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Magri 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD PatXXXI PubMed: Magri 2011 - M - Italy - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD Pat29 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F24 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (inferred) - pathogenic (recessive) g.31196901G>A - - - DMD_000007 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I blood WES DMD #753 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 70 c.10108C>T r.10108c>u p.Arg3370* Parent #1 - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - - - M - Italy - - - - - 1 Giacomo Comi
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Bonnal 2010 - - Germline - - - - - DNA DHPLC, SEQ - - BMD/DMD TU00208 PubMed: Bonnal 2010 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Bonnal 2010 - - Germline - - - - - DNA DHPLC, SEQ - - BMD/DMD G13 PubMed: Bonnal 2010 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Hwa 2008 - - Germline - 3/114 cases - - - DNA SEQ - - BMD/DMD - PubMed: Hwa 2008 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Hwa 2008 - - Germline/De novo (untested) - 3/114 cases - - - DNA SEQ - - BMD/DMD - PubMed: Hwa 2008 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Hwa 2008 - - Germline/De novo (untested) - 3/114 cases - - - DNA SEQ - - BMD/DMD - PubMed: Hwa 2008 - M - Taiwan - - - - - 1 Johan den Dunnen
+?/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - likely pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Park 2017 - - Germline/De novo (untested) - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat71 PubMed: Park 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD Pt-stop PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD Pt-stop PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zhong 2019 - - Germline - 2/78 carriers - - - DNA MLPA, SEQ - - Healthy/Control NMC13 PubMed: Zhong 2019 analysis 78 carriers BMD/DMD, healthy F - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zhong 2019 - - Germline - 2/78 carriers - - - DNA MLPA, SEQ - - Healthy/Control NMC19 PubMed: Zhong 2019 analysis 78 carriers BMD/DMD, healthy F - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Parent #1 - pathogenic g.31196901G>A g.31178784G>A - - DMD_000007 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894787 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - BMD/DMD ? PubMed: Selvatici 2020 - M - Ukraine - - - - - 1 Alessandra Ferlini
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - BMD/DMD ? PubMed: Selvatici 2020 - M - Hungary - - - - - 1 Alessandra Ferlini
+?/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - likely pathogenic g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown ACMG pathogenic g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ saliva - BMD/DMD PM8 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown ACMG pathogenic g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ whole blood - BMD/DMD PM9 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown ACMG pathogenic g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ saliva - BMD/DMD PM10 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown ACMG pathogenic g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ saliva - BMD/DMD CTPM1 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 carrier mother F - (United States) - - - - - 1 Madhuri Hegde
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Maternal (inferred) - pathogenic (recessive) g.31196901G>A - - - DMD_000007 - PubMed: Luce 2021 - - Unknown - - - - - DNA SEQ-NG-I BLOOD - MD #846 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 70 c.10108C>T r.? p.(Arg3370*) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD Pat16 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.? p.(Arg3370*) Maternal (confirmed) - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Yun 2021 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat56 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370*) Unknown - pathogenic g.31196901G>A - DMD(NM_004006.3):c.10108C>T (p.R3370*) - DMD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Maternal (confirmed) ACMG likely pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zamani 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - BMD/DMD Pat36 PubMed: Zamani 2022 - M - Iran - - - - - 1 Mansour Heidari
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zamani 2022, Journal: Zamani 2022 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Zamani 2022, Journal: Zamani 2022 - M - Iran - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Yamputchong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - DMD - PubMed: Yamputchong 2020 - M - Thailand - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Maternal (confirmed) - pathogenic (recessive) g.31196901G>A g.31178784G>A 10084C>T (Arg3362Ter) NM_000109.2? - DMD_000007 - PubMed: Gan 2022 - - Germline - 1/150 cases BMD/DMD - - - DNA MLPA, SEQ, SEQ-NG - - BMD/DMD - PubMed: Gan 2022 patient (carrier mother) M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD D607 PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD D645 PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. - c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - 4y-Xi ratio blood 23:77 (pat/mat) DNA MLPA, SEQ - - BMD/DMD Pat58 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown ACMG pathogenic (recessive) g.31196901G>A g.31178784G>A c.10108C>T p.(Arg3370*) - DMD_000007 ACMG PVS1, PS4, PM2 - - - Germline ? - Teodora Barbarii - - DNA ddF - - DMD - - - M - Romania - - - - - 1 Teodora Barbarii
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown ACMG pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat279 PubMed: Zhao 2024, Journal: Zhao 2024 family M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown ACMG pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat280 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown ACMG pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat281 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown ACMG pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat282 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown ACMG pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat283 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat103 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat199 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD #888 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 family, several affected M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10108C>T r.(?) p.(Arg3370Ter) Unknown - pathogenic (recessive) g.31196901G>A g.31178784G>A - - DMD_000007 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 13126 PubMed: Zinina 2025 family, several affected M - Russia - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.