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.

43 entries on 1 page. Showing entries 1 - 43.
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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     
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Both (homozygous) - pathogenic (recessive) g.71795437del g.71568307del - - DYSF_000213 - PubMed: Paradas 2009, Journal: Paradas 2009 - - Germline - - - - - DNA, RNA SEQ - - ? 19084402 pt.1 PubMed: Paradas 2009, Journal: Paradas 2009 - M no Spain white >05y - - - 1 Pieter Klap
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Both (homozygous) - pathogenic (recessive) g.71795437del g.71568307del - - DYSF_000213 - PubMed: Paradas 2009, Journal: Paradas 2009 - - Germline - - - - - DNA, RNA SEQ - - ? 19084402 pt.2 PubMed: Paradas 2009, Journal: Paradas 2009 - F no Spain - >02y - - - 1 Pieter Klap
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 ACMG pathogenic g.71795437del g.71568307del 2779delG - DYSF_000213 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008 dysZA F - Iran - - - - - 1 Svetlana Gorokhova
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #2 ACMG pathogenic g.71795437del g.71568307del 2779delG - DYSF_000213 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008 dysZA F - Iran - - - - - 1 Svetlana Gorokhova
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Kesari 2008 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Kesari 2008 - F - United States - >31y - - - 1 Akanchha Kesari
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Kesari 2008 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Kesari 2008 - M - United States - >41y - - - 1 Akanchha Kesari
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #2 ACMG pathogenic g.71795437del g.71568307del 2779delG - DYSF_000213 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 ACMG pathogenic g.71795437del g.71568307del 2779delG - DYSF_000213 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #2 ACMG pathogenic g.71795437del g.71568307del 2779delG - DYSF_000213 ACMG PVS1, PM3 strong, PM2, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Unknown - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 ethnic control chromosomes PubMed: Leshinsky-Silver 2007 - - Germline - 2/100 - - - DNA SEQ - - ? 17825554-c PubMed: Leshinsky-Silver 2007 - - - Israel Jewish;white - - - - 2 Johan den Dunnen
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Leshinsky-Silver 2007 - - Germline - - - - - DNA SEQ - - LGMD 17825554-Pats PubMed: Leshinsky-Silver 2007 8 families, 10 patients - - Israel Jewish;white - - - - 10 Johan den Dunnen
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #2 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Leshinsky-Silver 2007 - - Germline - - - - - DNA SEQ - - LGMD 17825554-Pats PubMed: Leshinsky-Silver 2007 8 families, 10 patients - - Israel Jewish;white - - - - 10 Johan den Dunnen
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nagaraju 2008 - - Germline - - - - - DNA DHPLC, SEQ - - ? 18276788-Pat04 PubMed: Nagaraju 2008 - F - United States - - - - - 1 Johan den Dunnen
+/. 26 c.2779del r.2779del p.Ala927Leufs*21 Paternal (confirmed) - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Paradas 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 19084402-Patb PubMed: Paradas 2009 brother of affected brother and sister M - Spain - - - - - 4 Johan den Dunnen
+/. 26 c.2779del r.2779del p.Ala927Leufs*21 Maternal (confirmed) - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Paradas 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 19084402-Patb PubMed: Paradas 2009 brother of affected brother and sister M - Spain - - - - - 4 Johan den Dunnen
+/. 26 c.2779del r.2779del p.Ala927Leufs*21 Paternal (confirmed) - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Paradas 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 19084402-Pats PubMed: Paradas 2009 sister of affected brother and sister F - Spain - - - - - 1 Johan den Dunnen
+/. 26 c.2779del r.2779del p.Ala927Leufs*21 Maternal (confirmed) - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Paradas 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 19084402-Pats PubMed: Paradas 2009 sister of affected brother and sister F - Spain - - - - - 1 Johan den Dunnen
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 27 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 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
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Both (homozygous) - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 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
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Both (homozygous) - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 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
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Both (homozygous) - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 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
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Both (homozygous) - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 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
+/. 26 c.2779del r.2779del p.Ala927Leufs*21 Parent #1 - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD PatX269 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.2779del r.(?) p.(Ala927Leufs*21) Unknown - pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 - - - rs727503909 Germline - - - - - DNA SEQ-NG - - LGMDR2;LGMD2B - - compound heterozygous patient M no Greece - 18y - - - 1 Helen Latsoudis
+/. - c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 - pathogenic g.71795437del - 2279delG - DYSF_000213 no variant 2nd chromosome PubMed: Schröder 2013 - - Germline - - - - - DNA SEQ - - LGMD DYSF-Pat1 PubMed: Schröder 2013 - - - Germany - - - - - 1 Johan den Dunnen
+/. 26 c.2779del r.(?) p.(Ala927Leufs*21) Parent #1 ACMG pathogenic (recessive) g.71795437del g.71568307del 2779delG - DYSF_000213 ACMG PVS1, PP1_sup, PM3_strong, PM2, PP4_mod PubMed: Cerino 2022 - - Germline yes - - - - DNA SEQ-NG Blood 10 genes panel LGMDR2;LGMD2B P29/Myo091 PubMed: Cerino 2022 - M ? Chile hispanic - - - - 1 JA Bevilacqua
+/. 26 c.2779del r.(?) p.(Ala927LeufsTer21) Parent #1 ACMG pathogenic g.71795437del g.71568307del - - DYSF_000213 ACMG PVS1, PM3_strong, PM2, PP1, PP4_mod 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
+/. 26 c.2779del r.(?) p.(Ala927LeufsTer21) Parent #1 ACMG pathogenic g.71795437del g.71568307del - - DYSF_000213 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
+/. 26 c.2779del r.(?) p.(Ala927LeufsTer21) Parent #1 ACMG pathogenic g.71795437del g.71568307del - - DYSF_000213 ACMG PVS1, PM2, PM3_strong, PP1, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P80/Myo156 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 26 c.2779del r.(?) p.(Ala927LeufsTer21) Parent #2 ACMG pathogenic g.71795437del g.71568307del 2779delG - DYSF_000213 ACMG PVS1, , PP1 sup; PM3 strong, PM2, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P26/Myo088 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. - c.4887-2A>G r.(?) p.(?) Unknown - pathogenic g.71891396A>G - - - DYSF_000213 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4887-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.71891396A>G - - - DYSF_000213 ACMG PSV1, PP4_mod, PM2, PM3_strong PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ-NG Blood 10 genes panel LGMDR2;LGMD2B P29/Myo091 PubMed: Cerino 2022 - M ? Chile hispanic - - - - 1 JA Bevilacqua
+/. 44i c.4887-2A>G r.(?) p.? Parent #1 ACMG pathogenic g.71891396A>G g.71664266A>G - - DYSF_000213 ACMG PSV1, PP4_mod, PM2, PM3_strong PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P26/Myo088 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
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