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.

72 entries on 1 page. Showing entries 1 - 72.
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.(10141C>T) r.10141c>u p.Arg3381* Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - - - - Germline - - - - - RNA MLPA, RT-PCR, SEQ - - BMD - - - M - - - - - - - 1 Akanchha Kesari
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Luce 2018 - - Unknown - - - - - DNA SEQ-NG-I Blood WES DMD #250 PubMed: Luce 2018 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 70 c.10141C>T r.10141c>u p.Arg3381* Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Gardner - - Germline - - - - - DNA, RNA PTT - - DMD - PubMed: Gardner - M - United Kingdom (Great Britain) - - - - - 1 Emma Ashton
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A 10349C>T - DMD_000067 20 exon PCR PubMed: Lenk, OMIM:var0067 - - Germline - - - - - DNA PCR, SSCA - - DMD - PubMed: Lenk, OMIM:var0067 - M - - - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.10141c>u p.Arg3381* Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 RNA muscle PubMed: Tuffery-Giraud, UMD 1441 database - - Germline - - BstBI-;TaqI- - - DNA, RNA PTT - - DMD - PubMed: Tuffery-Giraud, UMD 1441 database - M - France - - - - - 1 Mireille Claustres
+/. 70 c.10141C>T r.10141c>u p.Arg3381* Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Fajkusova, PubMed: Sedlackova 2009 - - Germline - - - - - RNA PTT, SEQ - - DMD - PubMed: Fajkusova, PubMed: Sedlackova 2009 - M - Czech Republic - - - - - 1 Jana Zidkova
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Buzin 2005 - - Germline - - - - - DNA DOVAM - - DMD - PubMed: Buzin 2005 - M - United States - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Prior - - Germline - - - - - DNA HD, DHPLC - - DMD - PubMed: Prior - M - United States - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - - - - Germline - - - - - DNA SEQ - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Flanigan 2009 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (confirmed) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Taylor 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007 carrier mother F - Australia - - - - - 1 Sarah Lang
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - - - - Germline - - - - - DNA SEQ - - DMD - - deceased M - (Australia) - - - - - 1 Sarah Lang
+/. 70 c.10141C>T r.(?) p.Arg3381* Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Almomani 2009 - - Germline - - - - - DNA MCA, SEQ - - DMD - PubMed: Almomani 2009 obligate carrier female (BMD/DMD) F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - - - - Germline - - - - - DNA SEQ - - DMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - UMD 3024 database - - Germline - - BstBI-;TaqI- - - DNA SEQ - - DMD - UMD 3024 database - F - France - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Moizard, UMD 1755 database - - Germline - - BstBI-;TaqI- - - DNA SEQ - - DMD - PubMed: Moizard, UMD 1755 database - M - France - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - UMD 1751 database - - Germline - - BstBI-;TaqI- - - DNA SEQ - - DMD - UMD 1751 database - M - France - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - UMD 2839 database - - Germline - - BstBI-;TaqI- - - DNA SEQ - - DMD - UMD 2839 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - UMD 3023 database - - Germline - - BstBI-;TaqI- - - DNA SEQ - - DMD - UMD 3023 database - M - France - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.10141c>u p.Arg3381* Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - UMD 2348 database - - Germline - - BstBI-;TaqI- - - DNA, RNA SEQ - - DMD - UMD 2348 database - M - France - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.10141c>u p.Arg3381* Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - UMD 2640 database - - Germline - - BstBI-;TaqI- - - DNA, RNA SEQ - - DMD - UMD 2640 database - M - France - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.10141c>u p.Arg3381* Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A 10349C>T - DMD_000067 Dp71 alternative transcript (ex69-74del) next to normal ex70-74del PubMed: Moizard 1998 - - Germline - - - - - DNA SEQ - - DMD 09800909.P49 PubMed: Moizard 1998 - M - (France) - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Flanigan 2009 - - Germline - - - - - DNA PCR, SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10141C>T r.10141c>u p.Arg3381* Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Takeshima 2010 - - Germline - - - - - DNA, RNA SEQ - - DMD - PubMed: Takeshima 2010 - M - Japan - - - - - 1 Masafumi Matsuo
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - - - - Germline - - - - - DNA DHPLC, SEQ - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Yang 2013 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat19 PubMed: Yang 2013 - M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Muscarella 2007 - - Germline - - - - - DNA DHPLC, SEQ - - DMD 17145200-Pat2 PubMed: Muscarella 2007 - M - Italy - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Taylor 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Sarah Lang
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Taylor 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Sarah Lang
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - Richards ASHG 2003 A2335 - - Germline - - - - - DNA DHPLC - - DMD - Richards ASHG 2003 A2335 - M - United States - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Flanigan 2009 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Flanigan 2009 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Flanigan 2009 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat335 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat336 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat337 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat338 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat339 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat340 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil Vitoria - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - MD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Magri 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD PatXXXII PubMed: Magri 2011 - M - Italy - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.Arg3381* Both (homozygous) ACMG pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 ACMG grading: PM2,PVS1,PP5; hemizygous; reported in Lenk 1993. Hum Mol Genet 2: 1877 Fajkusová 1998. J Neurogenet 12: 183 - - rs104894790 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. 70 c.10141C>T r.(?) p.Arg3381* Unknown ACMG pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 ACMG grading: PP5,PM2,PVS1,PM3; reported in Lenk 1993. Hum Mol Genet 2: 1877 Fajkusová 1998. J Neurogenet 12: 183 Cho 2017. Muscle Nerve 55: 727 - - rs104894790 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Wang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD Pat37 PubMed: Wang 2019 mother not analysed M - China Han - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (confirmed) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ - - BMD/DMD Pat62 PubMed: Wang 2019 carrier mother M - China Han - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (confirmed) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ-NG - - BMD/DMD Pat69 PubMed: Wang 2019 carrier mother M - China Han - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (confirmed) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Wang 2019 - - Germline - - - - - DNA SEQ-NG - - BMD/DMD Pat71 PubMed: Wang 2019 carrier mother M - China Han - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD Pat40 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F29 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Maternal (confirmed) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Yang 2019 - - Germline - 1/100 cases BMD/DMD - - - DNA MLPA, SEQ - - BMD/DMD P98 PubMed: Yang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - - - M - Italy - - - - - 1 Giacomo Comi
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Parent #1 - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline - - - - - DNA SEQ - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - BMD/DMD ? PubMed: Selvatici 2020 - M - Ukraine - - - - - 1 Alessandra Ferlini
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown ACMG pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 ACMG PVS1, PM2, PP3, PP5 PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD PatS33 PubMed: Kohli 2020 - M - India - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381*) Unknown - pathogenic (recessive) g.31196868G>A - - - DMD_000067 - PubMed: Pasca 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - DMD patient PubMed: Pasca 2022 - M - Italy - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD D605 PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown ACMG pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 ACMG PVS1, PS4, PM2 - - - Germline - - Teodora Barbarii - - DNA SEQ - - DMD DMD-Indv035 - - M ? Romania - - - - - 1 Teodora Barbarii
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown ACMG pathogenic (recessive) g.31196868G>A g.31178751G>A c.10141C>T, p.(Arg3381*) - DMD_000067 ACMG PVS1, PS4, PM2 - - - Germline - - Teodora Barbarii - - DNA ? - - DMD - - - M - Romania - - - - - 1 Teodora Barbarii
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown ACMG pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat284 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown ACMG pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat285 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat261 PubMed: Xie 2024 family M - China - - - - not treated 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 1770 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 1770 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 1770 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 1770 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 70 c.10141C>T r.(?) p.(Arg3381Ter) Unknown - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 1770 PubMed: Zinina 2025 family, 2 affected M - Russia - - - - - 2 Johan den Dunnen
+/. - c.10141C>T r.(?) p.(Arg3381Ter) Maternal (inferred) - pathogenic (recessive) g.31196868G>A g.31178751G>A - - DMD_000067 - PubMed: Zinchenko 2025 - - Germline - - - - - DNA SEQ - - BMD/DMD Pat1.1 PubMed: Zinchenko 2025 2-generation family, patient, affected brother/affected uncle M - Russia Ossetia - - - - 3 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.