Full data view for gene DYSF

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
NOTE: the DYSF coding DNA reference sequence used has been updated. The "DNA_change" column gives descriptions based on NM_003494.3, meaning that exon 40b has been removed and variant descriptions 3' of c.4410 differ from those given previously (-63 nucleotides). The column "DNA_AllExon" gives descriptions based on a transcript incl. exons 5b and 40b. For details see the DYSF coding DNA reference sequence.
Information The variants shown are described using the NM_003494.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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     
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Both (homozygous) - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Zhao 2013, Journal: Zhao 2013 - - Germline - - - - - DNA SEQ - - MMD 23254335 pt.1 PubMed: Zhao 2013, Journal: Zhao 2013 - F - China - >26y - - - 1 Pieter Klap
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Both (homozygous) - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Zhao 2013, Journal: Zhao 2013 - - Germline - - - - - DNA SEQ - - MMD 23254335 pt.2 PubMed: Zhao 2013, Journal: Zhao 2013 - M - China - >19y - - - 1 Pieter Klap
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - LGMDR2;LGMD2B 25591676 F1-309-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >25y - - - 1 Pieter Klap
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PM2, PM3, PP4 moderate, PP1 supporting; classification updated PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008 dysOR M - France - - - - - 1 Svetlana Gorokhova
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Klinge 2010 - - Germline - - - - - DNA SEQ - - LGMD 19528035-Pat06 PubMed: Klinge 2010 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #2 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Klinge 2010 - - Germline - - - - - DNA SEQ - - LGMD 19528035-Pat06 PubMed: Klinge 2010 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Unknown - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Saintmard 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD pat PubMed: Saintmard 2017 - M no France - - - - - 1 Johan den Dunnen
+/. 28 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Pat44 PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys-183 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Both (homozygous) - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-21 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Both (homozygous) - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-75 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. - c.3112C>T r.(?) p.(Arg1038*) Unknown ACMG pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG grading: PS4,PM2,PM3,PM5; 5 year old patient; Int. FMF et al. 1997. Cell 90: 797; Dewalle et al. 1998. EJHG 6: 95; Mordechai et al. 2016. GeneReviews 0: 0; Aksentijevich et al. 1999. AJHG 64: 949-62; Sugiyama et al. 2014. Mol Biol Rep 41: 545-53 - - rs369607332 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 no variant identified 2nd chromosome PubMed: Jin 2016 - - Germline - - - - - DNA MLPA, SEQ-NG - - MD Pat80 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. - c.3112C>T r.(?) p.(Arg1038*) Parent #1 - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 no variant 2nd chromosome PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P131 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+?/. - c.3112C>T r.(?) p.(Arg1038*) Unknown - likely pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 combination of variants not reported PubMed: Topf 2020 - - Germline - 4/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 4 Johan den Dunnen
+/. - c.3112C>T r.(?) p.(Arg1038*) Both (homozygous) ACMG pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Mojbafan 2020 - - Germline - - - - - DNA SEQ - - LGMD  Fam22Pat1 PubMed: Mojbafan 2020 2-generation family, 2 affected - - Iran - - - - - 2 Johan den Dunnen
+/. - c.3112C>T r.(?) p.(Arg1038*) Both (homozygous) ACMG pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Mojbafan 2020 - - Germline - - - - - DNA SEQ - - LGMD  Fam22Pat2 PubMed: Mojbafan 2020 - - - Iran - - - - - 1 Johan den Dunnen
+/. 29 c.3112C>T r.(?) p.(Arg1038*) Unknown ACMG pathogenic (recessive) g.71797809C>T - - - DYSF_000216 ACMG PVS1, PM2, PM3, PP4 moderate, PP1 supporting Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 2 Svetlana Gorokhova
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #1 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 no variant found on 2nd allele; ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat66 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #1 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat118 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #1 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat120 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #1 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat131 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #1 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat172 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #1 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat199 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #2 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat118 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #2 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat120 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Parent #2 ACMG pathogenic g.71797809C>T g.71570679C>T - - DYSF_000216 ACMG PVS1, PP4_s, PM3_v, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs369607332 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat147 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3112C>T r.(?) p.(Arg1038Ter) Unknown - pathogenic g.71797809C>T - - - DYSF_000216 - - - rs369607332 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29 c.3112C>T r.(?) p.(Arg1038Ter) Both (homozygous) - pathogenic (recessive) g.71797809C>T g.71570679C>T - - DYSF_000216 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-DYSF9 PubMed: Khadilkar 2022 - - - India - - - - - 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.