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.

33 entries on 1 page. Showing entries 1 - 33.
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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     
+?/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - MMD 25591676 F1-313-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >31y - - - 1 Pieter Klap
+/. 47 c.5302C>T r.5302c>u p.Arg1768Trp Parent #1 - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Therrien 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD FamVII PubMed: Therrien 2006 - - - Italy - - - - - 1 Johan den Dunnen
?/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 - VUS g.71894607C>T g.71667477C>T - - DYSF_000126 - - - - Germline - - - - - DNA SEQ, SSCA - - MMD - - - M - United States - - - - - 1 Rosário dos Santos
+/. 47 c.5302C>T r.5302c>u p.Arg1768Trp Parent #2 - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MMD 17070050-PatXXIII.1/XXIII.2 PubMed: De Luna 2006 - - - Spain - - - - - 2 Johan den Dunnen
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM3 strong, PP1 strong, PM2, PP4 moderate, PP3; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Nguyen 2007, PubMed: Krahn 2008 - M - - - - - - - 1 Svetlana Gorokhova
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM3 strong, PP1 strong, PM2, PP4 moderate, PP3; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Gal 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 18808059-pat PubMed: Gal 2008 - M - Hungary - >30y - - - 1 Johan den Dunnen
+?/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 - likely pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 - likely pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 - likely pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Both (homozygous) - likely pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Both (homozygous) - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD Fam1Pat2122 PubMed: Cacciottolo 2011 family, 4 affected - - Italy - - - - - 4 Johan den Dunnen
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Both (homozygous) - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD Fam1Pat2123 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Both (homozygous) - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD Fam1Pat2470 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Both (homozygous) - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD Fam1Pat2471 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+?/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 - likely pathogenic (recessive) g.71894607C>T g.71667477C>T g.71667477C>T - DYSF_000126 - PubMed: Sevy 2016, PubMed: Cerino 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 298 gene panel neuromuscular disease MPD Pat3 PubMed: Sevy 2016, PubMed: Cerino 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - France - - - - - 2 Mathieu Cerino
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-161 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Both (homozygous) - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat5 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. 47 c.5302C>T r.(?) p.(Arg1768Trp) Both (homozygous) - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat49 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Both (homozygous) - pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P177 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+?/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 - likely pathogenic (recessive) g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Sevy 2016, PubMed: Cerino 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 298 gene panel neuromuscular disease MPD Pat4 PubMed: Sevy 2016, PubMed: Cerino 2020 brother of Pat3 M - France - - - - - 1 Mathieu Cerino
+?/. - c.5302C>T r.(?) p.(Arg1768Trp) Unknown - likely pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat8 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat79 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #1 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat245 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat8 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat79 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat142 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat189 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat207 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 ACMG pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 ACMG PM2, PP4_s, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs746243052 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat245 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.5302C>T r.(?) p.(Arg1768Trp) Parent #2 - pathogenic g.71894607C>T g.71667477C>T - - DYSF_000126 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 247-gene panel LGMD Pat17 PubMed: Liang 2020 - M - Taiwan - - - - - 1 Johan den Dunnen
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