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.

19 entries on 1 page. Showing entries 1 - 19.
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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     
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #1 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 - PubMed: Bashir, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA SEQ, SSCA - - LGMD - PubMed: Bashir, OMIM:var0005 unaffected allele Romanian - - Libya Jewish - - - - 1 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #1 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC codon 1624delG in Agrov - DYSF_000005 - PubMed: Bashir, PubMed: Argov 2000, PubMed: Aoki, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA SEQ, SSCA - - LGMD - PubMed: Bashir, PubMed: Argov 2000, PubMed: Aoki, OMIM:var0005 23 affecteds from 11 families - - Libya Jewish - - - - 23 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #2 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC codon 1624delG in Agrov - DYSF_000005 - PubMed: Bashir, PubMed: Argov 2000, PubMed: Aoki, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA SEQ, SSCA - - LGMD - PubMed: Bashir, PubMed: Argov 2000, PubMed: Aoki, OMIM:var0005 23 affecteds from 11 families - - Libya Jewish - - - - 23 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #1 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 - PubMed: Aoki - - Germline - - - - - DNA SEQ, SSCA - - MMD Fam63 PubMed: Aoki - F;M - France - - - - - 2 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #2 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 - PubMed: Aoki - - Germline - - - - - DNA SEQ, SSCA - - MMD Fam63 PubMed: Aoki - F;M - France - - - - - 2 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.4872_4876delinscccc p.Glu1624Aspfs*10 Parent #1 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 not in 100 control chromosomes PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA, RNA RT-PCR, SEQ - - LGMD 16996541.IX-2a PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 daugther of 16996541.IX-1, sister of 16996541.IX-2b F - Italy - - - - - 2 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.4872_4876delinscccc p.Glu1624Aspfs*10 Parent #2 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 not in 100 control chromosomes PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA, RNA RT-PCR, SEQ - - LGMD 16996541.IX-2a PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 daugther of 16996541.IX-1, sister of 16996541.IX-2b F - Italy - - - - - 2 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #1 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - BmyI-;AvaII+ - - DNA SEQ - - LGMD - PubMed: Cagliani 2005, PubMed: Guglieri 2008 - M - Italy - >49y - - - 1 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #1 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 - - - - Germline - - - - - DNA HD - - MMD - - - - - Italy - - - - - 1 Julia Mela
+/. 44 c.4872_4876delinsCCCC r.4872_4876delinscccc p.Glu1624Aspfs*10 Parent #1 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 not in 100 control chromosomes PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA, RNA RT-PCR, SEQ - - LGMD 16996541.IX-2b PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 daugther of 16996541.IX-1, sister of 16996541.IX-2a F - Italy - - - - - 2 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.4872_4876delinscccc p.Glu1624Aspfs*10 Parent #2 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 not in 100 control chromosomes PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA, RNA RT-PCR, SEQ - - LGMD 16996541.IX-2b PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 daugther of 16996541.IX-1, sister of 16996541.IX-2a F - Italy - - - - - 2 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.4872_4876delinscccc p.Glu1624Aspfs*10 Parent #2 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 not in 100 control chromosomes PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA, RNA RT-PCR, SEQ - - LGMD 16996541.IX-1 PubMed: Sinnreich 2006, PubMed: Therrien 2006, OMIM:var0016 father of 16996541.IX-2a, 16996541.IX-2b F - Italy - - - - - 1 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #2 ACMG pathogenic g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 ACMG PVS1, PM3 strong, PM2, PP4 moderate; classification updated not in 200 control alleles PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #2 ACMG pathogenic g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC 4872_4876delGCCCGinsCCCC - DYSF_000005 ACMG PVS1, PM3 strong, PM2, PP4 moderate; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Nguyen 2007, PubMed: Krahn 2008 - F - Algeria - - - - - 1 Svetlana Gorokhova
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #1 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC codon 1624delG in Agrov - DYSF_000005 - PubMed: Bashir, PubMed: Argov 2000, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA SEQ, SSCA - - LGMD 10825360-Fam PubMed: Bashir, PubMed: Argov 2000, OMIM:var0005 4-generation family, 6 affecteds (3F, 3M) - - Libya Jewish - - - - 6 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Parent #2 - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC codon 1624delG in Agrov - DYSF_000005 - PubMed: Bashir, PubMed: Argov 2000, OMIM:var0005 - - Germline - - BmyI-;AvaII+ - - DNA SEQ, SSCA - - LGMD 10825360-Fam PubMed: Bashir, PubMed: Argov 2000, OMIM:var0005 4-generation family, 6 affecteds (3F, 3M) - - Libya Jewish - - - - 6 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Unknown - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC 4872_4876delGCCCGinsCCCC - DYSF_000005 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Both (homozygous) - pathogenic (recessive) g.71887767_71887771delinsCCCC g.71660637_71660641delinsCCCC - - DYSF_000005 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD PatX296 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 44 c.4872_4876delinsCCCC r.(?) p.(Glu1624Aspfs*10) Unknown ACMG pathogenic (recessive) g.71887767_71887771delinsCCCC - - - DYSF_000005 ACMG PVS1, PM3 strong, PM2, PP4 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - F - France - - - - - 1 Svetlana Gorokhova
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