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.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+?/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #2 - likely pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP15 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >33y - - - 1 Pieter Klap
+?/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - ? 25591676 F1-318-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >20y - - - 1 Pieter Klap
?/. - c.3113G>A r.(?) p.(Arg1038Gln) Unknown - VUS g.71797810G>A g.71570680G>A DYSF(NM_003494.3):c.3113G>A (p.(Arg1038Gln)) - DYSF_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 not in 200 control chromosomes PubMed: Cagliani, PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Cagliani 2003 brother of 14663034c-VI.2 M - Italy - >38y - - - 1 Johan den Dunnen
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #2 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Kesari 2008 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD 28/18832576-PatD2 PubMed: Kesari 2008 - F - United States - - - - - 1 Akanchha Kesari
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 not in 200 control chromosomes PubMed: Cagliani, PubMed: Cagliani 2005, PubMed: Guglieri 2007 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Cagliani 2003 brother of 14663034c-VI.1 M - Italy - >41y - - - 1 Johan den Dunnen
+?/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Unknown ACMG pathogenic g.71797810G>A g.71570680G>A - - DYSF_000154 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated UMD-Predictor score 59 (non-pathogenic) PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Nagaraju 2008 - - Germline - - - - - DNA DHPLC, SEQ - - ? 18276788-Pat03 PubMed: Nagaraju 2008 - F - United States - - - - - 1 Johan den Dunnen
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Nagaraju 2008 - - Germline - - - - - DNA DHPLC, SEQ - - ? 18276788-Pat13 PubMed: Nagaraju 2008 - F - United States - - - - - 1 Johan den Dunnen
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Kesari 2008 - - Germline - - - - - DNA DHPLC, SEQ - - ? 18832576-PatD15 PubMed: Kesari 2008 - F - (United States) - >18y - - - 1 Johan den Dunnen
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Both (homozygous) - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 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
?/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Both (homozygous) - VUS g.71797810G>A g.71570680G>A - - DYSF_000154 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.3113G>A r.(?) p.(Arg1038Gln) Parent #2 - likely pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat85 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
?/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Unknown - VUS g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD PatX289 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+?/. - c.3113G>A r.(?) p.(Arg1038Gln) Parent #2 - likely pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - DNA SEQ, SEQ-NG - gene panel LGMD Pat12 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - - - - 1 Johan den Dunnen
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam55Pat1/2 PubMed: Magri 2015 family, 2 affected (2M) M - Italy - - - - - 2 Johan den Dunnen
+/. - c.3113G>A r.(?) p.(Arg1038Gln) Both (homozygous) - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.3113G>A r.(?) p.(Arg1038Gln) Unknown - likely pathogenic g.71797810G>A g.71570680G>A - - DYSF_000154 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 3 Johan den Dunnen
+/. - c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 ACMG pathogenic g.71797810G>A g.71570680G>A - - DYSF_000154 ACMG PP3, PM2, PM3_s, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs150877497 Germline - 3/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat141 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3113G>A r.(?) p.(Arg1038Gln) Parent #1 ACMG pathogenic g.71797810G>A g.71570680G>A - - DYSF_000154 ACMG PP3, PM2, PM3_s, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs150877497 Germline - 3/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat166 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3113G>A r.(?) p.(Arg1038Gln) Parent #2 ACMG pathogenic g.71797810G>A g.71570680G>A - - DYSF_000154 ACMG PP3, PM2, PM3_s, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs150877497 Germline - 3/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat237 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
?/. - c.3113G>A r.(?) p.(Arg1038Gln) Unknown - VUS g.71797810G>A - DYSF(NM_003494.3):c.3113G>A (p.(Arg1038Gln)) - DYSF_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29 c.3113G>A r.(?) p.(Arg1038Gln) Parent #2 - pathogenic (recessive) g.71797810G>A g.71570680G>A - - DYSF_000154 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat12 PubMed: Guo 2021 patient F - China - - - - - 1 Johan den Dunnen
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