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     
+/. 6 c.610C>T r.(?) p.(Arg204*) Paternal (confirmed) - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - - - - Germline - - - - - DNA SEQ - - MMD - - brother of G94-0608b M - Germany - >32y - - - 1 Lab Müller-Reible
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #2 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - Rao, Am.J.Hum.Genet. 71: S427 - - Germline - - - - - DNA SEQ - - LGMD - Rao, Am.J.Hum.Genet. 71: S427 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 ACMG pathogenic g.71740998C>T g.71513868C>T - - DYSF_000064 ACMG PVS1, PM2, PM3, 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 dysGRA M - France - - - - - 1 Svetlana Gorokhova
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #2 - pathogenic (recessive) g.71740998C>T g.71513868C>T Arg203X - DYSF_000064 - PubMed: Kesari 2008 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Kesari 2008 - F - United States - >19y - - - 1 Akanchha Kesari
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 ACMG pathogenic g.71740998C>T g.71513868C>T - - DYSF_000064 ACMG PVS1, PM2, PM3, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - Canada - - - - - 1 Tom Winder
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Nagaraju 2008 - - Germline - - - - - DNA DHPLC, SEQ - - ? 18276788-Pat01 PubMed: Nagaraju 2008 - F - United States - - - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Rosales 2010 - - Germline - - - - - DNA SEQ - - LGMD 20544924-Pat07 PubMed: Rosales 2010 - M - (United States) - - - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Rosales 2010 - - Germline - - - - - DNA SEQ - - MMD 20544924-Pat15 PubMed: Rosales 2010 brother of of 20544924-Pat16 M - (United States) - >60y - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Rosales 2010 - - Germline - - - - - DNA SEQ - - MMD 20544924-Pat16 PubMed: Rosales 2010 brother of of 20544924-Pat15 M - (United States) - >52y - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Paternal (inferred) - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - - - Canada Arab - - - - 1 Tom Winder
+/. 6 c.610C>T r.(?) p.(Arg204*) Maternal (inferred) - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - - - Canada Arab - - - - 1 Tom Winder
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - Nilsson & Tarnopolsky 201, submitted - - Germline - - - - - DNA SEQ - - LGMD P6 Nilsson & Tarnopolsky 201, submitted - F - Canada - >28y - - - 1 Mats Nilsson
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #2 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - Nilsson & Tarnopolsky 201, submitted - - Germline - - - - - DNA SEQ - - LGMD P6 Nilsson & Tarnopolsky 201, submitted - F - Canada - >28y - - - 1 Mats Nilsson
+/. 6 c.610C>T r.(?) p.(Arg204*) Unknown - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 6 c.610C>T r.(?) p.(Arg204*) Both (homozygous) - VUS g.71740998C>T g.71513868C>T - - DYSF_000064 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
+/. 6 c.610C>T r.(?) p.(Arg204*) Both (homozygous) - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 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
+/. - c.610C>T r.(?) p.(Arg204*) Paternal (inferred) - likely pathogenic (recessive) g.71740998C>T g.71513868C>T 613C>T (R205X) - DYSF_000064 - PubMed: Hu 2018 - - De novo - - - - - DNA SEQ - - MMD Pat PubMed: Hu 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Both (homozygous) - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys145-1 PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 102 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys-190 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #2 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-249 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat41 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat67 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 no variant identified 2nd chromosome PubMed: Jin 2016 - - Germline - - - - - DNA MLPA, SEQ - - MD Pat83 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. 6 c.610C>T r.(?) p.(Arg204*) Parent #1 - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 no variant identified 2nd chromosome PubMed: Jin 2016 - - Germline - - - - - DNA MLPA, SEQ - - MD Pat87 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. - c.610C>T r.(?) p.(Arg204*) Paternal (confirmed) - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P41 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.610C>T r.(?) p.(Arg204Ter) Parent #1 ACMG pathogenic g.71740998C>T g.71513868C>T - - DYSF_000064 no variant found on 2nd allele; ACMG PVS1, PM3_s, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs373585652 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat9 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.610C>T r.(?) p.(Arg204Ter) Parent #1 ACMG pathogenic g.71740998C>T g.71513868C>T - - DYSF_000064 ACMG PVS1, PM3_s, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs373585652 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat44 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.610C>T r.(?) p.(Arg204Ter) Parent #1 ACMG pathogenic g.71740998C>T g.71513868C>T - - DYSF_000064 ACMG PVS1, PM3_s, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs373585652 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat99 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.610C>T r.(?) p.(Arg204Ter) Parent #1 ACMG pathogenic g.71740998C>T g.71513868C>T - - DYSF_000064 ACMG PVS1, PM3_s, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs373585652 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat108 PubMed: Zhong 2021, Journal: Zhong 2021 - - - China - - - - - 1 Huahua Zhong
+/. - c.610C>T r.(?) p.(Arg204Ter) Parent #1 ACMG pathogenic g.71740998C>T g.71513868C>T - - DYSF_000064 no variant found on 2nd allele; ACMG PVS1, PM3_s, PP3, PM2 PubMed: Zhong 2021, Journal: Zhong 2021 - rs373585652 Germline - 5/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat109 PubMed: Zhong 2021, Journal: Zhong 2021 - - - China - - - - - 1 Huahua Zhong
+/. - c.610C>T r.(?) p.(Arg204Ter) Unknown - pathogenic (recessive) g.71740998C>T g.71513868C>T - - DYSF_000064 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat91 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
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