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.

46 entries on 1 page. Showing entries 1 - 46.
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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     
+/. - c.5713C>T r.(?) p.(Arg1905*) Both (homozygous) - pathogenic (recessive) g.71901372C>T - - - DYSF_000021 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - MMD 16087766-FamA1 PubMed: Vilchez 2005 3-generation family, 4 affecteds M - Spain - - - - - 4 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - MMD 16087766-FamA1 PubMed: Vilchez 2005 3-generation family, 4 affecteds M - Spain - - - - - 4 Johan den Dunnen
+/. 51 c.5713C>T r.5713c>u p.Arg1905* Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MMD 17070050-PatIII.1/III.2 PubMed: De Luna 2006 - - - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.5713c>u p.Arg1905* Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: De Luna 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MMD 17070050-PatIII.1/III.2 PubMed: De Luna 2006 - - - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 ACMG pathogenic g.71901372C>T g.71674242C>T - - DYSF_000021 ACMG PVS1, PM3 strong, PM2, PP4 moderate; classification updated PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008 dysCA M - France - - - - - 1 Svetlana Gorokhova
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 ACMG pathogenic g.71901372C>T g.71674242C>T - - DYSF_000021 ACMG PVS1, PM3 strong, PM2, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Krahn 2008 - M - India - - - - - 1 Svetlana Gorokhova
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 ACMG pathogenic g.71901372C>T g.71674242C>T - - DYSF_000021 ACMG PVS1, PM3 strong, PM2, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - MMD 16087766-FamA2 PubMed: Vilchez 2005 3-generation family, 4 affecteds F - Spain - - - - - 4 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - MMD 16087766-FamA2 PubMed: Vilchez 2005 3-generation family, 4 affecteds F - Spain - - - - - 4 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - MMD 16087766-FamB3 PubMed: Vilchez 2005 3-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - MMD 16087766-FamB3 PubMed: Vilchez 2005 3-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - MMD 16087766-FamB4 PubMed: Vilchez 2005 3-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - MMD 16087766-FamB4 PubMed: Vilchez 2005 3-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - ? 16087766-FamC5 PubMed: Vilchez 2005 3-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - ? 16087766-FamC5 PubMed: Vilchez 2005 3-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - ? 16087766-FamC6 PubMed: Vilchez 2005 3-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - ? 16087766-FamC6 PubMed: Vilchez 2005 3-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - ? 16087766-FamD7 PubMed: Vilchez 2005 2-generation family, affected daugther F - Spain - - - - - 1 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - ? 16087766-FamD7 PubMed: Vilchez 2005 2-generation family, affected daugther F - Spain - - - - - 1 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - LGMD 16087766-FamE8 PubMed: Vilchez 2005 2-generation family, affected daugther F - Spain - - - - - 1 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 founder haplotype PubMed: Vilchez 2005, OMIM:var0012, {DB: Barcelona}, - - Germline - - - - - DNA SEQ, SSCA - - LGMD 16087766-FamE8 PubMed: Vilchez 2005 2-generation family, affected daugther F - Spain - - - - - 1 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Rosales 2010 - - Germline - - - - - DNA SEQ - - LGMD 20544924-Pat18 PubMed: Rosales 2010 - F - (United States) - - - - - 1 Johan den Dunnen
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Unknown - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Both (homozygous) - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 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
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Both (homozygous) - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Both (homozygous) - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 Inconclusive PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.5713C>T r.(?) p.(Arg1905*) Both (homozygous) - likely pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs121908959 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys155-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. - c.5713C>T r.(?) p.(Arg1905*) Parent #1 - pathogenic g.71901372C>T g.71674242C>T - - DYSF_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908959 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 51 c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys-202 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
./. - c.5713C>T r.(?) p.(Arg1905*) Parent #2 - pathogenic (recessive) g.71901372C>T - - - DYSF_000021 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 51 c.5713C>T r.(?) p.(Arg1905Ter) Both (homozygous) - pathogenic g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5728 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.5713C>T r.(?) p.(Arg1905Ter) Parent #2 ACMG pathogenic g.71901372C>T g.71674242C>T - - DYSF_000021 ACMG PVS1, PP3, PM2, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908959 Germline - 2/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat138 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.5713C>T r.(?) p.(Arg1905Ter) Parent #2 ACMG pathogenic g.71901372C>T g.71674242C>T - - DYSF_000021 ACMG PVS1, PP3, PM2, PM3_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs121908959 Germline - 2/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat233 PubMed: Zhong 2021, Journal: Zhong 2021 - - - China - - - - - 1 Huahua Zhong
+/. - c.5713C>T r.(?) p.(Arg1905Ter) Parent #2 ACMG pathogenic (recessive) g.71901372C>T g.71674242C>T - - DYSF_000021 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat47 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
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