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.

46 entries on 1 page. Showing entries 1 - 46.
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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     
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 brother of 14663034c-Ib M - Italy - >30y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #2 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 brother of 14663034c-Ib M - Italy - >30y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Paternal (confirmed) - pathogenic (recessive) g.71797014C>T g.71569884C>T 3247C>T - DYSF_000016 not in 120 control chromosomes PubMed: Kawabe 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MMD 15469449-F6c/B1II2 PubMed: Kawabe 2004 family of 15469449.F6a and b; 1-II.2 in Fanin 2006 M yes Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Maternal (confirmed) - pathogenic (recessive) g.71797014C>T g.71569884C>T 3247C>T - DYSF_000016 not in 120 control chromosomes PubMed: Kawabe 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MMD 15469449-F6c/B1II2 PubMed: Kawabe 2004 family of 15469449.F6a and b; 1-II.2 in Fanin 2006 M yes Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Paternal (inferred) - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 deletion excluded by FISH PubMed: Cagliani 2003, PubMed: Cagliani 2005 - - Germline - - - - - DNA, RNA SEQ - - LGMD - PubMed: Cagliani 2003 - M - Italy - >34y - - - 3 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Maternal (confirmed) - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 deletion excluded by FISH PubMed: Cagliani 2003, PubMed: Cagliani 2005 - - Germline - - - - - DNA, RNA SEQ - - LGMD - PubMed: Cagliani 2003 - M - Italy - >34y - - - 3 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - Mela, ICHG2001 P1505 - {DB: ROMA} - - Germline - - - - - DNA, RNA HD, RT-PCR, SEQ - - MMD - Mela, ICHG2001 P1505 - {DB: ROMA} - - - Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #2 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - Mela, ICHG2001 P1505 - {DB: ROMA} - - Germline - - - - - DNA, RNA HD, RT-PCR, SEQ - - MMD - Mela, ICHG2001 P1505 - {DB: ROMA} - - - Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 sister of 14663034c-IV.2 F - Italy - 67y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #2 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 - F - Italy - >46y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #2 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - - - - Germline - - - - - DNA HD - - MMD - - - - - Italy - - - - - 1 Julia Mela
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD 17070050-PatII.1/II.2 PubMed: De Luna 2006 - - - Spain - - - - - 2 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2003 - - Germline - - - - - DNA, RNA SEQ - - LGMD - PubMed: Cagliani 2003 - F - Italy - >67y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Paternal (confirmed) - pathogenic (recessive) g.71797014C>T g.71569884C>T 3247C>T - DYSF_000016 not in 120 control chromosomes PubMed: Kawabe 2004, PubMed: Fanin 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MMD 15469449-F6b/B1II1 PubMed: Kawabe 2004, PubMed: Fanin 2006 family of 15469449.F6a and c; 1-II.2 in Fanin 2006 M no Italy - >28y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Maternal (confirmed) - pathogenic (recessive) g.71797014C>T g.71569884C>T 3247C>T - DYSF_000016 not in 120 control chromosomes PubMed: Kawabe 2004, PubMed: Fanin 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MMD 15469449-F6b/B1II1 PubMed: Kawabe 2004, PubMed: Fanin 2006 family of 15469449.F6a and c; 1-II.2 in Fanin 2006 M no Italy - >28y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T 3247C>T - DYSF_000016 not in 120 control chromosomes PubMed: Kawabe 2004, PubMed: Fanin 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - hCK 15469449-F6a/B1I1 PubMed: Kawabe 2004, PubMed: Fanin 2006 father of 15469449.F6a and b; 1-I.1 in Fanin 2006 M no Italy - >65y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 brother of 14663034c-Ia M - Italy - >35y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #2 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 brother of 14663034c-Ia M - Italy - >35y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.2875c>u p.Arg959Trp Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 sister of 14663034c-IV.1 F - Italy - >76y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 brother of 14663034c-X.2 M - Italy - >39y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 brother of 14663034c-X.1 M - Italy - >47y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >43y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #2 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >43y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cagliani 2003 - - Germline - - - - - DNA, RNA SEQ - - LGMD - PubMed: Cagliani 2003 - F - Italy - >73y - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Klinge 2010 - - Germline - - - - - DNA SEQ - - MMD 19528035-Pat08 PubMed: Klinge 2010 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Both (homozygous) - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD PatR089 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Both (homozygous) - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD PatX374 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD PatX411 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Both (homozygous) - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam42Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam44Pat1/2 PubMed: Magri 2015 family, 2 affected (2F) F - Italy - - - - - 2 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Both (homozygous) - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam48Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #1 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam54Pat1/2 PubMed: Magri 2015 family, 2 affected (2M) M - Italy - - - - - 2 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Both (homozygous) - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam58Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Parent #2 - pathogenic (recessive) g.71797014C>T g.71569884C>T - - DYSF_000016 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam43Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.2875C>T r.(?) p.(Arg959Trp) Unknown - likely pathogenic g.71797014C>T g.71569884C>T - - DYSF_000016 combination of variants not reported 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
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.71797014C>T - - - DYSF_000016 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3 Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - F - France - - - - - 1 Svetlana Gorokhova
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Unknown ACMG pathogenic (recessive) g.71797014C>T - - - DYSF_000016 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3 Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+/. 27 c.2875C>T r.(?) p.(Arg959Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.71797014C>T - - - DYSF_000016 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3 Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+/. - c.2875C>T r.(?) p.(Arg959Trp) Parent #1 ACMG pathogenic g.71797014C>T g.71569884C>T - - DYSF_000016 ACMG PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs202218890 Germline - 2/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat210 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.2875C>T r.(?) p.(Arg959Trp) Parent #2 ACMG pathogenic g.71797014C>T g.71569884C>T - - DYSF_000016 ACMG PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs202218890 Germline - 2/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat161 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
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