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.

28 entries on 1 page. Showing entries 1 - 28.
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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     
+?/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #2 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - MMD 25591676 F1-316-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >39y - - - 1 Pieter Klap
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 moderate; 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 dysGR M - France - - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 moderate; classification updated PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008 dysNI M - France - - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #2 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 moderate; classification updated PubMed: Nguyen 2005, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Nguyen 2005 - - - Algeria - - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #2 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA DHPLC, SEQ - - MMD - PubMed: Krahn 2008 - M - France white - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #2 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, 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 white - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #2 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 moderate; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Nguyen 2007, PubMed: Krahn 2008 - M - Morocco - - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #2 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 moderate; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Nguyen 2007, PubMed: Krahn 2008 - M - Morocco - - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 not in 200 control chromosomes PubMed: Liewluck 2009 - - Germline - - - - - DNA SSCA, SEQ - - DMAT 19493611-Pat5 PubMed: Liewluck 2009 - M - Thailand - >31y - - - 1 Johan den Dunnen
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #2 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 - Nilsson & Tarnopolsky 201, submitted - - Germline - - - - - DNA SEQ - - LGMD P1 Nilsson & Tarnopolsky 201, submitted - M - Canada - >27y - - - 1 Mats Nilsson
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Unknown - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 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
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Both (homozygous) - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 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
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Both (homozygous) - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 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
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Both (homozygous) - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 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
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Both (homozygous) - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 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.1663C>T r.(?) p.(Arg555Trp) Both (homozygous) ACMG pathogenic (recessive) g.71778761C>T g.71551631C>T NM_001130987.1:c.1717C>T - DYSF_000211 ACMG PM2, PP3, PP5 PubMed: Özyilmaz 2019 - rs377735262 Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat17 PubMed: Özyilmaz 2019 - F - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.1663C>T r.(?) p.(Arg555Trp) Both (homozygous) - likely pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 - PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys208-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD PatX300 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD 81 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-288 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Parent #1 - pathogenic (recessive) g.71778761C>T g.71551631C>T - - DYSF_000211 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD N24 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+?/. - c.1663C>T r.(?) p.(Arg555Trp) Unknown - likely pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 combination of variants not reported PubMed: Topf 2020 - - Germline - 4/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 4 Johan den Dunnen
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Paternal (confirmed) ACMG pathogenic g.71778761C>T - - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 supporting Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+/. 19 c.1663C>T r.(?) p.(Arg555Trp) Unknown ACMG pathogenic (recessive) g.71778761C>T - - - DYSF_000211 ACMG PM3 very strong, PM2, PP1 supporting, PP3, PP4 supporting Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+/. - c.1663C>T r.(?) p.(Arg555Trp) Parent #1 ACMG pathogenic g.71778761C>T g.71551631C>T - - DYSF_000211 ACMG PM2, PP4_m, PM3_sup PubMed: Zhong 2021, Journal: Zhong 2021 - rs377735262 Germline - 1/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat168 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
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