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.

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

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     
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP1 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >26y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #2 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP3 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >50y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP4 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >19y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - 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
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP14 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >45y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - MMD 25868377 NP20 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >43y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #2 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - MMD 25868377 NP21 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >22y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA arraySEQ - - MMD 25868377 NP23 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >34y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP28 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >38y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP29 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >28y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - MMD 25868377 NP30 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >38y - - - 1 Pieter Klap
+?/. 13i c.1284+2T>C r.spl? p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - ? 25591676 F1-320-1-2 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >26y - - - 1 Pieter Klap
+/. 13i c.1284+2T>C r.spl p.(?) Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C IVS13+2T>C - DYSF_000150 - PubMed: Tagawa - - Germline - - - - - DNA SEQ, SSCA - - MMD 12767493-Pat13 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 13i c.1284+2T>C r.spl p.(?) Parent #2 - pathogenic (recessive) g.71755533T>C g.71528403T>C IVS13+2T>C - DYSF_000150 - PubMed: Tagawa - - Germline - - - - - DNA SEQ, SSCA - - MMD 12767493-Pat13 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 13i c.1284+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.1284+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat149 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+?/. - c.1284+2T>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat155 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+?/. - c.1284+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat155 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+?/. - c.1284+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat159 PubMed: Park 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1284+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. 13i c.1284+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-90 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 13i c.1284+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat25 PubMed: Jin 2016 family M - China - - - - - 2 Johan den Dunnen
+/. - c.1284+2T>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.71755533T>C g.71528403T>C - - DYSF_000150 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P148 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. i13 c.1284+2T>C r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.71755533T>C - - - DYSF_000150 ACMG PM3 very strong, PM2, PVS1 moderate, PP4 supporting Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+/. - c.1284+2T>C r.spl? p.? Parent #1 ACMG pathogenic g.71755533T>C g.71528403T>C - - DYSF_000150 ACMG PVS1, PM3_s, PP3, PM2, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs398123765 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat73 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1284+2T>C r.spl? p.? Parent #1 ACMG pathogenic g.71755533T>C g.71528403T>C - - DYSF_000150 ACMG PVS1, PM3_s, PP3, PM2, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs398123765 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat117 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1284+2T>C r.(?) p.? Parent #1 ACMG pathogenic g.71755533T>C g.71528403T>C - - DYSF_000150 ACMG PVS1, PM3_s, PP3, PM2, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs398123765 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat127 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1284+2T>C r.spl p.? Parent #1 ACMG pathogenic g.71755533T>C g.71528403T>C - - DYSF_000150 ACMG PVS1, PM3_s, PP3, PM2, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs398123765 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat160 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1284+2T>C r.(?) p.? Parent #1 ACMG pathogenic g.71755533T>C g.71528403T>C - - DYSF_000150 ACMG PVS1, PM3_s, PP3, PM2, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs398123765 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat182 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1284+2T>C r.(?) p.? Parent #1 ACMG pathogenic g.71755533T>C g.71528403T>C - - DYSF_000150 ACMG PVS1, PM3_s, PP3, PM2, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs398123765 Germline - 6/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat194 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.