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.

33 entries on 1 page. Showing entries 1 - 33.
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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     
+/. 10i c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A IVS10+1G>A - DYSF_000116 - PubMed: Takahashi 2003, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ, SSCA - - MMD - PubMed: Takahashi 2003, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 10i c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - - - - Germline - - - - - DNA SEQ, SSCA - - MMD - - - M - United States - - - - - 1 Rosário dos Santos
+/. 10i c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A g.71520209G>A IVS10+1G>A - DYSF_000116 - PubMed: Saito 2002 - - Germline - - - - - DNA SEQ, SSCA - - MMD 12410383-Pat5 PubMed: Saito 2002 - F - Japan - - - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A g.71520209G>A IVS10+1G>A - DYSF_000116 - PubMed: Takahashi 2003, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ, SSCA - - MMD - PubMed: Takahashi 2003, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. - c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A - - - DYSF_000116 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Ten Dam 2019 - - - Suriname Creole - - - - 1 Ieke Ginjaar
+/. 10i c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A g.71520209G>A IVS10+1G>A - DYSF_000116 - PubMed: Ro 2004 - - Germline - - NlaI+ - - DNA SEQ - - MMD 15477515-FamAII:1 PubMed: Ro 2004 2-generation family, 2 affected sisters and brother F - China Taiwan - - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A g.71520209G>A IVS10+1G>A - DYSF_000116 - PubMed: Cagliani 2005 - - Germline - - - - - DNA SEQ - - MMD Fam4 PubMed: Cagliani 2005 - M - Italy - >43y - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A g.71520209G>A IVS10+1G>A - DYSF_000116 - PubMed: Krahn 2008 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 10i c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A g.71520209G>A IVS10+1G>A - DYSF_000116 - PubMed: Ro 2004 - - Germline - - NlaI+ - - DNA SEQ - - MMD 15477515-FamAII:2 PubMed: Ro 2004 2-generation family, 2 affected sisters and brother M - China Taiwan - - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71747339G>A g.71520209G>A IVS10+1G>A - DYSF_000116 - PubMed: Ro 2004 - - Germline - - NlaI+ - - DNA SEQ - - MMD 15477515-FamAII:3 PubMed: Ro 2004 2-generation family, 2 affected sisters and brother M - China Taiwan - - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Unknown - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 10i c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 10i c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 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
+/. 10i c.937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 variant apparently homozygous; 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
+?/. - c.937+1G>A r.spl p.? Parent #1 - likely pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat162 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys37-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) 2-generation family, affected brother/sister, unaffected parents M - Japan - - - - - 2 Rumiko Izumi
+/. 10i c.937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys37-2 PubMed: Takahashi 2013, Izumi 2020 (submitted) sister of Dys37-1 F - Japan - - - - - 1 Rumiko Izumi
+/. 10i c.937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys78-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 10i c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys-44 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 10i c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat37 PubMed: Jin 2016 family M - China - - - - - 2 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat60 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. - c.937+1G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P33 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.937+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71747339G>A g.71520209G>A - - DYSF_000116 ACMG PVS1, PM3_s, PP3, PP4_m, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs201869739 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat23 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.937+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71747339G>A g.71520209G>A - - DYSF_000116 ACMG PVS1, PM3_s, PP3, PP4_m, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs201869739 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat40 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.937+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71747339G>A g.71520209G>A - - DYSF_000116 ACMG PVS1, PM3_s, PP3, PP4_m, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs201869739 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat147 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.937+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71747339G>A g.71520209G>A - - DYSF_000116 ACMG PVS1, PM3_s, PP3, PP4_m, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs201869739 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat174 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.937+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71747339G>A g.71520209G>A - - DYSF_000116 ACMG PVS1, PM3_s, PP3, PP4_m, BS1 PubMed: Zhong 2021, Journal: Zhong 2021 - rs201869739 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat207 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.937+1G>A r.spl p.? Parent #1 - pathogenic g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 247-gene panel LGMD Pat18 PubMed: Liang 2020 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.937+1G>A r.spl p.? Both (homozygous) - pathogenic g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 247-gene panel LGMD Pat19 PubMed: Liang 2020 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 proteome profiling reported in 2024 PubMed: Guo 2021, PubMed: Wang 2024 - - Germline - - - - - DNA SEQ - - MD Pat5;Pat1 PubMed: Guo 2021, PubMed: Wang 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat12 PubMed: Guo 2021 patient F - China - - - - - 1 Johan den Dunnen
+/. 10i c.937+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71747339G>A g.71520209G>A - - DYSF_000116 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat13 PubMed: Guo 2021 patient M - China - - - - - 1 Johan den Dunnen
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