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.

16 entries on 1 page. Showing entries 1 - 16.
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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     
+/. 33 c.3601C>T r.(?) p.(Gln1201*) Both (homozygous) - pathogenic (recessive) g.71825774C>T g.71598644C>T - - DYSF_000575 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - MMD 25591676 F1-299-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M yes China - >34y - - - 1 Pieter Klap
+/. 33 c.3601C>T r.(?) p.(Gln1201*) Parent #2 - pathogenic (recessive) g.71825774C>T g.71598644C>T - - DYSF_000575 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - LGMDR2;LGMD2B 25591676 F1-308-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >37y - - - 1 Pieter Klap
+/. 33 c.3601C>T r.(?) p.(Gln1201*) Parent #1 - pathogenic (recessive) g.71825774C>T g.71598644C>T - - DYSF_000575 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat18 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. 33 c.3601C>T r.(?) p.(Gln1201*) Parent #2 - pathogenic (recessive) g.71825774C>T g.71598644C>T - - DYSF_000575 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat31 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. - c.3601C>T r.(?) p.(Gln1201*) Paternal (confirmed) - pathogenic (recessive) g.71825774C>T g.71598644C>T - - DYSF_000575 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P20 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.3601C>T r.(?) p.(Gln1201*) Paternal (confirmed) - pathogenic (recessive) g.71825774C>T g.71598644C>T - - DYSF_000575 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P122 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #1 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat63 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #1 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat159 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #1 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat189 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #1 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat214 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #1 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat216 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #2 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat33 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #2 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat158 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #2 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat159 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.3601C>T r.(?) p.(Gln1201Ter) Parent #2 ACMG pathogenic g.71825774C>T g.71598644C>T - - DYSF_000575 ACMG PVS1, PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs1380642629 Germline - 9/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat216 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. 33 c.3601C>T r.(?) p.(Gln1201Ter) Parent #1 - pathogenic (recessive) g.71825774C>T g.71598644C>T - - DYSF_000575 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat1 PubMed: Guo 2021 patient M - China - - - - - 1 Johan den Dunnen
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