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.

36 entries on 1 page. Showing entries 1 - 36.
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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     
+?/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Szymanska 2014, Journal: Szymanska 2014 - - Germline - - - - - DNA SEQ - - LGMD 25574751 pt.1 PubMed: Szymanska 2014, Journal: Szymanska 2014 - F - (Poland) - >19y - - - 1 Pieter Klap
+?/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - MMD 25591676 F1-314-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - - - - - 1 Pieter Klap
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Kesari 2008 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Kesari 2008 - M - United States - >20y - - - 1 Akanchha Kesari
+/. 54 c.6124C>T r.6124c>u p.Arg2042Cys Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Therrien 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD FamVI PubMed: Therrien 2006 - - - Italy - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Liu, PubMed: Aoki, PubMed: Fanin 2006, OMIM:var0004 - - Germline - - - - - DNA SEQ, SSCA - - LGMD 16934466-FamB3II.3 PubMed: Liu, PubMed: Aoki, PubMed: Fanin 2006, OMIM:var0003 family of 15469449.II.5 and 7;Fam56 in Liu 1998 F - Italy - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 - M - Italy - >49y - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.6124c>u p.Arg2042Cys Parent #2 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MMD 17070050-PatV.1/V.2 PubMed: De Luna 2006 - - - Spain - - - - - 2 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Liu, PubMed: Aoki, PubMed: Fanin 2006, OMIM:var0004 - - Germline - - - - - DNA SEQ, SSCA - - MMD 16934466-FamB3II.5 PubMed: Liu, PubMed: Aoki, PubMed: Fanin 2006, OMIM:var0003 family of 15469449.II.3 and 7;Fam56 in Liu 1998 M - Italy - >27y - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Liu, PubMed: Aoki, PubMed: Fanin 2006, OMIM:var0004 - - Germline - - - - - DNA SEQ, SSCA - - LGMD 16934466-FamB3II.7 PubMed: Liu, PubMed: Aoki, PubMed: Fanin 2006, OMIM:var0003 family of 15469449.II.3 and 5;Fam56 in Liu 1998 F - Italy - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Unknown - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - - - - Germline - - - - - DNA SEQ - - MMD - - - M - (Canada) - - - - - 1 Lab Müller-Reible
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 ACMG pathogenic g.71909727C>T g.71682597C>T - - DYSF_000004 ACMG PM3 very strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Nguyen 2007, PubMed: Krahn 2008 - F - Italy - - - - - 1 Svetlana Gorokhova
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 ACMG pathogenic g.71909727C>T g.71682597C>T - - DYSF_000004 ACMG PM3 very strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Nguyen 2007, PubMed: Krahn 2008 - F - Italy - - - - - 1 Svetlana Gorokhova
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 ACMG pathogenic g.71909727C>T g.71682597C>T - - DYSF_000004 ACMG PM3 very strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M - France - - - - - 1 Svetlana Gorokhova
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Kesari 2008 - - Germline - - - - - DNA DHPLC, SEQ - - ? 18832576-PatD16 PubMed: Kesari 2008 - M - (United States) - >21y - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Khadilkar 2008 - - Germline - - - - - DNA SEQ - - DMAT 18974570-Patb1 PubMed: Khadilkar 2008 elder of 2 affected brothers M - India - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Khadilkar 2008 - - Germline - - - - - DNA SEQ - - DMAT 18974570-Patb2 PubMed: Khadilkar 2008 younger of 2 affected brothers M - India - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Parent #1 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Vincent 2016 - - Germline - - - - - DNA SEQ - - MD PatDYSF7 PubMed: Vincent 2016 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat45 PubMed: Pronicka 2016 - F - Poland - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Both (homozygous) - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD Pat3866 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+?/. - c.6124C>T r.(?) p.(Arg2042Cys) Unknown - likely pathogenic g.71909727C>T g.71682597C>T - - DYSF_000004 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 3 Johan den Dunnen
+/. - c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 ACMG pathogenic g.71909727C>T g.71682597C>T - - DYSF_000004 ACMG PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908955 Germline - 1/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat155 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.6124C>T r.(?) p.(Arg2042Cys) Both (homozygous) ACMG pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat46 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.6124C>T r.(?) p.(Arg2042Cys) Both (homozygous) ACMG pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat52 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.6124C>T r.(?) p.(Arg2042Cys) Both (homozygous) ACMG pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat66 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.6124C>T r.(?) p.(Arg2042Cys) Parent #2 - pathogenic g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ-NG - clincal WES NMD Pat36 PubMed: Thomas 2022 no family history - no France - - - - - 1 Johan den Dunnen
+?/. 55 c.6124C>T r.(?) p.(Arg2042Cys) Both (homozygous) - likely pathogenic g.71909727C>T - c.6124C>T;p.(Arg2042Cys) - DYSF_000004 - PubMed: Escobar-Cedillo 2021 - - Germline - - - - - DNA SEQ-NG Blood - LGMD - PubMed: Escobar-Cedillo 2021 - M - Mexico Mexican-mestizo - - - - 1 Luz Berenice Lopez-Hernandez
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Both (homozygous) - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-DYSF3 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Both (homozygous) - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-DYSF4 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Both (homozygous) - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-DYSF5 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Paternal (inferred) - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Fam4PatIIa PubMed: Guo 2021 2-generation family, 2 affected F - China - - - - - 2 Johan den Dunnen
+/. 54 c.6124C>T r.(?) p.(Arg2042Cys) Paternal (inferred) - pathogenic (recessive) g.71909727C>T g.71682597C>T - - DYSF_000004 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Fam4PatIIb PubMed: Guo 2021 brother M - China - - - - - 1 Johan den Dunnen
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