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.

21 entries on 1 page. Showing entries 1 - 21.
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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     
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #1 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - Rao, Am.J.Hum.Genet. 71: S427 - - Germline - - - - - DNA SEQ - - LGMD - Rao, Am.J.Hum.Genet. 71: S427 - - - - - - - - - 1 Johan den Dunnen
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #2 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - - - - Germline - - - - - DNA SEQ, SSCA - - MMD - - - - - United States - - - - - 1 Rosário dos Santos
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #1 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - PubMed: Cagliani 2005 - - Germline - - - - - DNA SEQ - - MMD Fam4 PubMed: Cagliani 2005 - M - Italy - >43y - - - 1 Johan den Dunnen
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #2 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - PubMed: Cho 2006 - - Germline - - - - - DNA SEQ - - MMD Pat3 PubMed: Cho 2006 brother and sister F;M - Korea, South (Republic) - - - - - 2 Johan den Dunnen
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #2 ACMG pathogenic g.71839803dup g.71612673dup 4200dupC - DYSF_000065 ACMG PVS1, PM3 strong, PM2, PP1 moderate, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Krahn 2008 - F - France white - - - - 1 Svetlana Gorokhova
+/. 39 c.4200dup r.(?) p.(Ile1401HIsfs*8) Parent #2 ACMG pathogenic g.71839803dup g.71612673dup 4200dupC - DYSF_000065 ACMG PVS1, PM3 strong, PM2, PP1 moderate, 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
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #1 ACMG pathogenic g.71839803dup g.71612673dup 4200dupC - DYSF_000065 ACMG PVS1, PM3 strong, PM2, PP1 moderate, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #2 ACMG pathogenic g.71839803dup g.71612673dup 4200dupC - DYSF_000065 ACMG PVS1, PM3 strong, PM2, PP1 moderate, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #1 ACMG pathogenic g.71839803dup g.71612673dup 4200dupC - DYSF_000065 ACMG PVS1, PM3 strong, PM2, PP1 moderate, PP4 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M - France - - - - - 1 Svetlana Gorokhova
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #1 ACMG pathogenic g.71839803dup g.71612673dup 4200dupC - DYSF_000065 ACMG PVS1, PM3 strong, PM2, PP1 moderate, PP4 moderate; classification updated PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Nguyen 2007, PubMed: Krahn 2008 - F - France - - - - - 1 Svetlana Gorokhova
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #1 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - PubMed: Klinge 2010 - - Germline - - - - - DNA SEQ - - LGMD 19528035-Pat10 PubMed: Klinge 2010 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #2 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - PubMed: Klinge 2010 - - Germline - - - - - DNA SEQ - - MMD 19528035-Pat14 PubMed: Klinge 2010 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Unknown - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #1 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #1 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupA - DYSF_000065 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 39 c.4200dup r.4200dup p.Ile1401Hisfs*8 Both (homozygous) - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA SEQ - - MD PatX551 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 39 c.4200dup r.(?) p.(Ile1401Hisfs*8) Parent #2 - pathogenic (recessive) g.71839803dup g.71612673dup 4200dupC - DYSF_000065 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat33 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. - c.4200dup r.(?) p.(Ile1401Hisfs*8) Maternal (confirmed) - pathogenic (recessive) g.71839803dup g.71612673dup c.4194dupC - DYSF_000065 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P28 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.4200dup r.(?) p.(Ile1401HisfsTer8) Parent #1 ACMG pathogenic g.71839803dup g.71612673dup - - DYSF_000065 ACMG PVS1, PM2, PM4, PM3 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 3/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat90 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.4200dup r.(?) p.(Ile1401HisfsTer8) Parent #1 ACMG pathogenic g.71839803dup g.71612673dup - - DYSF_000065 no variant found on 2nd allele; ACMG PVS1, PM2, PM4, PM3 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 3/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat110 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.4200dup r.(?) p.(Ile1401HisfsTer8) Parent #2 ACMG pathogenic g.71839803dup g.71612673dup - - DYSF_000065 ACMG PVS1, PM2, PM4, PM3 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 3/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat36 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
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