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.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

VIP     

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Owner     
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM3 very strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Nguyen 2005, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Nguyen 2005 - - - France - - - - - 1 Svetlana Gorokhova
+/. 53 c.5979dup r.5979dup p.Glu1994Argfs*3 Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD 17070050-PatVII.1/VII.2 PubMed: De Luna 2006 - - - Spain - - - - - 2 Johan den Dunnen
+/. 53 c.5979dup r.5979dup p.Glu1994Argfs*3 Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD 17070050-PatVII.1/VII.2 PubMed: De Luna 2006 - - - Spain - - - - - 2 Johan den Dunnen
+/. 53 c.5979dup r.5979dup p.Glu1994Argfs*3 Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD 17070050-PatXIII PubMed: De Luna 2006 - - - Spain - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.5979dup p.Glu1994Argfs*3 Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD 17070050-PatXIII PubMed: De Luna 2006 - - - Spain - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM3 very strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Krahn 2008 dysLE F - France - - - - - 1 Svetlana Gorokhova
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 6352_6353insA - DYSF_000054 - PubMed: Anderson - - Germline - - - - - DNA SEQ, SSCA - - LGMD P1 PubMed: Anderson - - - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - - - - Germline - - - - - DNA SEQ, SSCA - - MMD - - - M - United States - - - - - 1 Rosário dos Santos
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979insA - DYSF_000054 - PubMed: Cagliani, PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Cagliani 2003 brother of 14663034c-VI.2 M - Italy - >38y - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - >36y - - - 1 Lab Müller-Reible
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - >58y - - - 1 Lab Müller-Reible
+/. 53 c.5979dup r.5979dup p.Glu1994Argfs*3 Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - 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
+/. 53 c.5979dup r.5979dup p.Glu1994Argfs*3 Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5978_5979insA - DYSF_000054 no pathogenic variant identified 2nd allele PubMed: Lo 2008 - - Germline - - ? - - DNA, RNA RT-PCR, SEQ - - MMD Pat-3 PubMed: Lo 2008 - M - Australia white - - - - 1 Maria Chiotis
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979insA - DYSF_000054 - PubMed: Cagliani, PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Cagliani 2003 brother of 14663034c-VI.1 M - Italy - >41y - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM3 very strong, PM2, PP4 moderate, PP1 supporting; 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM3 very strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, PubMed: Wein 2009, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM3 very strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Krahn 2008 - F yes France - - - - - 1 Svetlana Gorokhova
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM3 very strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Krahn 2008 - F yes France - - - - - 1 Svetlana Gorokhova
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Paternal (inferred) - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - F - United States Hispanic - - - - 1 Tom Winder
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Maternal (inferred) - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - F - United States Hispanic - - - - 1 Tom Winder
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Klinge 2010 - - Germline - - - - - DNA SEQ - - LGMD 19528035-Pat18 PubMed: Klinge 2010 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Klinge 2010 - - Germline - - - - - DNA SEQ - - MMD 19528035-Pat20 PubMed: Klinge 2010 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Unknown - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Unknown - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #1 - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Both (homozygous) - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Both (homozygous) - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Both (homozygous) - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Both (homozygous) - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Both (homozygous) - pathogenic (recessive) g.71908163dup g.71681033dup 5979dupA - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994Argfs*3) Parent #2 - pathogenic (recessive) g.71908163dup g.71681033dup 5979InsA - DYSF_000054 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam55Pat1/2 PubMed: Magri 2015 family, 2 affected (2M) M - Italy - - - - - 2 Johan den Dunnen
+?/. - c.5979dup r.(?) p.(Glu1994Argfs*3) Unknown - likely pathogenic g.71908163dup g.71681033dup - - DYSF_000054 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
+/. 53 c.5979dup r.(?) p.(Glu1994ArgfsTer3) Parent #1 ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM3 very strong, PM2, PP4_mod, PP1_sup. PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P33/Myo095 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994ArgfsTer3) Both (homozygous) ACMG pathogenic g.71908163dup g.71681033dup - - DYSF_000054 ACMG PVS1, PM3_strong, PM2, PP4_mod, PP1_sup PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P67/Myo145 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994ArgfsTer3) Both (homozygous) ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM2, PM3_strong, PP4_mod, PP1 PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P74/Myo150 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994ArgfsTer3) Parent #2 ACMG pathogenic g.71908163dup g.71681033dup - - DYSF_000054 ACMG PVS1, PM3_strong, PM2, PP4_mod, PP1_sup PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P39/Myo102 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994ArgfsTer3) Parent #2 ACMG pathogenic g.71908163dup g.71681033dup - - DYSF_000054 ACMG PVS1, PM3_strong, PM2, PP4_mod, PP1_sup PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P59/Myo137 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994ArgfsTer3) Parent #2 ACMG pathogenic g.71908163dup g.71681033dup 5979dupA - DYSF_000054 ACMG PVS1, PM3_strong, PM2, PP4_mod, PP1 PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P73/Myo149 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 53 c.5979dup r.(?) p.(Glu1994ArgfsTer3) Parent #2 ACMG pathogenic g.71908163dup g.71681033dup - - DYSF_000054 ACMG PVS1, PM2, PM3_strong, PP1, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P79/Myo155 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
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