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.

20 entries on 1 page. Showing entries 1 - 20.
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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     
+/. 8 c.797_798del r.(?) p.(Phe267LeufsTer5) Both (homozygous) - pathogenic (recessive) g.71743316_71743317del g.71516186_71516187del 797-798delTT - DYSF_000337 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat2 PubMed: Guo 2021 patient F - China - - - - - 1 Johan den Dunnen
+/. 8 c.797_798del r.(?) p.(Phe267LeufsTer5) Both (homozygous) - pathogenic (recessive) g.71743316_71743317del g.71516186_71516187del 797-798delTT - DYSF_000337 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat17 PubMed: Guo 2021 patient F - China - - - - - 1 Johan den Dunnen
+/. 8 c.799_800del r.(?) p.(Phe267Leufs*5) Parent #1 - pathogenic (recessive) g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - LGMDR2;LGMD2B 25591676 F1-312-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >27y - - - 1 Pieter Klap
+/. 8 c.799_800del r.(?) p.(Phe267Leufs*5) Parent #1 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM2, PM3, PP4 moderate; classification updated not in 200 control alleles PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Nguyen 2007, PubMed: Krahn 2008 - F - France white - - - - 1 Svetlana Gorokhova
+/. 8 c.799_800del r.(?) p.(Phe267Leufs*5) Both (homozygous) - pathogenic (recessive) g.71743316_71743317del g.71516186_71516187del 799_800delTT - DYSF_000337 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat36 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.799_800del r.(?) p.(Phe267Leufs*5) Parent #1 - pathogenic (recessive) g.71743316_71743317del g.71516186_71516187del 799_800delTT - DYSF_000337 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat47 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. 8 c.799_800del r.(?) p.(Phe267Leufs*5) Both (homozygous) - pathogenic (recessive) g.71743316_71743317del g.71516186_71516187del 799_800delTT - DYSF_000337 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat50 PubMed: Jin 2016 family M - China - - - - - 2 Johan den Dunnen
+/. - c.799_800del r.(?) p.(Phe267Leufs*5) Both (homozygous) - pathogenic (recessive) g.71743316_71743317del g.71516186_71516187del c.799_800delTT - DYSF_000337 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P32 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. 8 c.799_800del r.(?) p.(Phe267Leufs*5) Unknown ACMG pathogenic g.71743316_71743317del - - - DYSF_000337 ACMG PVS1, PM2, PM3, PP4 moderate Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - LGMDR2;LGMD2B - Journal: Charnay 2021 - F - France - - - - - 1 Svetlana Gorokhova
+/. 8 c.799_800del r.(?) p.(Phe267Leufs*5) Unknown ACMG pathogenic (recessive) g.71743316_71743317del - - - DYSF_000337 ACMG PVS1, PM2, PM3, PP4 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - F - France - - - - - 1 Svetlana Gorokhova
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #1 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat11 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #1 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat35 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #1 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat39 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #1 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat84 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #1 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat202 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #1 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat220 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #2 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat39 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #2 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat84 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #2 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat202 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.799_800del r.(?) p.(Phe267LeufsTer5) Parent #2 ACMG pathogenic g.71743316_71743317del g.71516186_71516187del - - DYSF_000337 ACMG PVS1, PM3_v, PM2, PM4 PubMed: Zhong 2021, Journal: Zhong 2021 - - Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat220 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
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