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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+?/. 46 c.5078G>A r.(?) p.(Arg1693Gln) Parent #2 - likely pathogenic (recessive) g.71892312G>A g.71665182G>A - - DYSF_000592 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP5 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >43y - - - 1 Pieter Klap
+/. 46 c.5078G>A r.(?) p.(Arg1693Gln) Parent #1 ACMG pathogenic g.71892312G>A g.71665182G>A - - DYSF_000592 ACMG PM3 strong, PM2, PP4 moderate, PP1 supporting, PP3; classification updated PubMed: Nguyen 2005, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Nguyen 2005, PubMed: Krahn 2008 dysON M - United States - - - - - 1 Svetlana Gorokhova
+/. - c.5078G>A r.(?) p.(Arg1693Gln) Both (homozygous) - pathogenic (recessive) g.71892312G>A g.71665182G>A - - DYSF_000592 - PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys192-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - - - Egypt - - - - - 1 Rumiko Izumi
+/. 46 c.5078G>A r.(?) p.(Arg1693Gln) Parent #2 - pathogenic (recessive) g.71892312G>A g.71665182G>A - - DYSF_000592 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-128 Izumi 2020 (submitted) - M - - - - - - - 1 Rumiko Izumi
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