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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Nguyen 2005, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Nguyen 2005 - - - Belgium - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 - pathogenic (recessive) g.71896803del g.71669673del 5966delG - DYSF_000002 - PubMed: Liu, PubMed: Aoki, OMIM:var0002 - - Germline - - - - - DNA SEQ, SSCA - - DMAT Fam71/Fam75 PubMed: Liu, PubMed: Aoki, OMIM:var0002 - - - Spain - - - - - 2 Johan den Dunnen
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 - pathogenic (recessive) g.71896803del g.71669673del 5966delG - DYSF_000002 - PubMed: Liu, PubMed: Aoki, OMIM:var0002 - - Germline - - - - - DNA SEQ, SSCA - - DMAT Fam71/Fam75 PubMed: Liu, PubMed: Aoki, OMIM:var0002 - - - Spain - - - - - 2 Johan den Dunnen
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 - pathogenic (recessive) g.71896803del g.71669673del 5594delG - DYSF_000002 - PubMed: Illa, OMIM:var0002 - - Germline - - - - - DNA SEQ, SSCA - - DMAT - PubMed: Illa, OMIM:var0002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 - pathogenic (recessive) g.71896803del g.71669673del 5594delG - DYSF_000002 - PubMed: Illa, OMIM:var0002 - - Germline - - - - - DNA SEQ, SSCA - - DMAT - PubMed: Illa, OMIM:var0002 - - - Spain - - - - - 1 Johan den Dunnen
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Nguyen 2005, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Nguyen 2005 - - - Morocco - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Nguyen 2005, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Nguyen 2005 - - - Morocco - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.5594del p.Gly1865Alafs*101 Paternal (inferred) - pathogenic (recessive) g.71896803del g.71669673del 5657delG - DYSF_000002 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - - - - DNA, RNA SEQ, RT-PCR - - LGMD 134/LGMD 20535123-PatIII PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M - Portugal - >23y - - - 1 Rosário dos Santos
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 - pathogenic (recessive) g.71896803del g.71669673del 5594delG - DYSF_000002 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >30y - - - 1 Johan den Dunnen
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 - pathogenic (recessive) g.71896803del g.71669673del 5594delG - DYSF_000002 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >30y - - - 1 Johan den Dunnen
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Krahn 2008 - - - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M yes France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M yes France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Nguyen 2007, PubMed: Krahn 2008 - M - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Unknown ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M yes France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M yes France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #1 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Nguyen 2007, PubMed: Krahn 2008 - M - Morocco - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Parent #2 ACMG pathogenic g.71896803del g.71669673del 5594delG - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Nguyen 2007, PubMed: Krahn 2008 - M - Morocco - - - - - 1 Svetlana Gorokhova
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Unknown - pathogenic (recessive) g.71896803del g.71669673del 5594delG - DYSF_000002 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Both (homozygous) - pathogenic (recessive) g.71896803del g.71669673del - - DYSF_000002 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam41Pat1 PubMed: Magri 2015 - M - Italy - - - - - 1 Johan den Dunnen
+/. 50 c.5594del r.(?) p.(Gly1865Alafs*101) Unknown ACMG pathogenic (recessive) g.71896803del - - - DYSF_000002 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+?/. - c.5594del r.(?) p.(Gly1865AlafsTer101) Both (homozygous) - likely pathogenic g.71896803del g.71669673del - - DYSF_000002 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P22 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+/. 50 c.5594del r.(?) p.(Gly1865AlafsTer101) Parent #1 ACMG pathogenic g.71896803del g.71669673del NM_003494.3:c.5594delG - DYSF_000002 ACMG PVS1, PM3_strong, PM2, PP4_mod, PP1_mod PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P61/Myo140 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. - c.5711delG r.(?) p.(Gly1865AlafsTer101) Both (homozygous) - pathogenic (recessive) g.71896803del g.71669673del 5711delG (Gly1904AlafsTer101) - DYSF_000002 - PubMed: Ababneh 2021 - rs786205081 Germline - - - - - DNA SEQ, SEQ-NG - WES NMD FM-04 PubMed: Ababneh 2021 4-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Jordan - - - - - 3 Johan den Dunnen
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