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.

28 entries on 1 page. Showing entries 1 - 28.
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     
+?/. 19 c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - MMD 25591676 F1-329-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M yes China - >35y - - - 1 Pieter Klap
+?/. 19 c.1667T>C r.(?) p.(Leu556Pro) Parent #1 - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - LGMDR2;LGMD2B 25591676 F1-3251-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - >30y - - - 1 Pieter Klap
+?/. - c.1667T>C r.(?) p.(Leu556Pro) Maternal (confirmed) - likely pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Liu 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - disease gene panel LGMD Fam1Pat PubMed: Liu 2018 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - likely pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs200916654 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys132-1 PubMed: Izumi 2015, Izumi 2020 (submitted) non-Japanese M - - - - - - - 1 Rumiko Izumi
+/. - c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs200916654 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys149-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Parent #1 - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat6 PubMed: Jin 2016 family M - China - - - - - 2 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat43 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Parent #2 - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ - - MD Pat52 PubMed: Jin 2016 family M - China - - - - - 2 Johan den Dunnen
+/. - c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P50 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.1667T>C r.(?) p.(Leu556Pro) Paternal (confirmed) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P180 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #1 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat47 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #1 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat81 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #1 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat102 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #1 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat139 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #1 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat145 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #1 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat171 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #2 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat13 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #2 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat47 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #2 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat145 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.1667T>C r.(?) p.(Leu556Pro) Parent #2 ACMG pathogenic g.71778765T>C g.71551635T>C - - DYSF_000644 ACMG PP4_s, PM3_v, PM2, PP3, PP1, PP4_s PubMed: Zhong 2021, Journal: Zhong 2021 - rs200916654 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat174 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Fam3PatIIa PubMed: Guo 2021 2-generation family, 3 affected M - China - - - - - 3 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Fam3PatIIb PubMed: Guo 2021 sister F - China - - - - - 1 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Fam3PatIIc PubMed: Guo 2021 sister F - China - - - - - 1 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Maternal (confirmed) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Fam4PatIIa PubMed: Guo 2021 2-generation family, 2 affected F - China - - - - - 2 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Maternal (confirmed) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Fam4PatIIb PubMed: Guo 2021 brother M - China - - - - - 1 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat6 PubMed: Guo 2021 patient F - China - - - - - 1 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat7 PubMed: Guo 2021 patient M - China - - - - - 1 Johan den Dunnen
+/. 19 c.1667T>C r.(?) p.(Leu556Pro) Both (homozygous) - pathogenic (recessive) g.71778765T>C g.71551635T>C - - DYSF_000644 - PubMed: Guo 2021 - - Germline - - - - - DNA SEQ - - MD Pat21 PubMed: Guo 2021 patient F - China - - - - - 1 Johan den Dunnen
Legend   How to query  


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