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.

17 entries on 1 page. Showing entries 1 - 17.
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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     
+?/. 11 c.965T>C r.(?) p.(Leu322Pro) Parent #2 - pathogenic (recessive) g.71747946T>C g.71520816T>C - - DYSF_000629 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - LGMDR2;LGMD2B 25591676 F1-305-1-2 PubMed: Xi 2014, Journal: Xi 2014 - F - China - >44y - - - 1 Pieter Klap
+?/. 11 c.965T>C r.(?) p.(Leu322Pro) Parent #2 - pathogenic (recessive) g.71747946T>C g.71520816T>C - - DYSF_000629 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - DNA SEQ - - ? 25591676 F1-321-1-1 PubMed: Xi 2014, Journal: Xi 2014 - M - China - - - - - 1 Pieter Klap
+/. - c.965T>C r.(?) p.(Leu322Pro) Maternal (confirmed) - pathogenic (recessive) g.71747946T>C g.71520816T>C 698T>C (L323P - DYSF_000629 - PubMed: Hu 2018 - - Germline - - - - - DNA SEQ - - MMD Pat PubMed: Hu 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+?/. 11 c.965T>C r.(?) p.(Leu322Pro) Parent #1 - likely pathogenic (recessive) g.71747946T>C g.71520816T>C - - DYSF_000629 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-248 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 11 c.965T>C r.(?) p.(Leu322Pro) Parent #2 - pathogenic (recessive) g.71747946T>C g.71520816T>C - - DYSF_000629 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat32 PubMed: Jin 2016 - F - China - - - - - 1 Johan den Dunnen
+/. 11 c.965T>C r.(?) p.(Leu322Pro) Parent #2 - pathogenic (recessive) g.71747946T>C g.71520816T>C - - DYSF_000629 - PubMed: Jin 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat70 PubMed: Jin 2016 - M - China - - - - - 1 Johan den Dunnen
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #1 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat140 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #1 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat146 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #1 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat177 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #1 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat190 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #1 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat206 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #1 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat208 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #2 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat34 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #2 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat113 PubMed: Zhong 2021, Journal: Zhong 2021 - - - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #2 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat151 PubMed: Zhong 2021, Journal: Zhong 2021 - F - China - - - - - 1 Huahua Zhong
+/. - c.965T>C r.(?) p.(Leu322Pro) Parent #2 ACMG pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 ACMG PP4_s, PM3_v, PM2, PP3 PubMed: Zhong 2021, Journal: Zhong 2021 - rs768546511 Germline - 10/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat157 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+?/. - c.965T>C r.(?) p.(Leu322Pro) Parent #1 - likely pathogenic g.71747946T>C g.71520816T>C - - DYSF_000629 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 247-gene panel LGMD Pat20 PubMed: Liang 2020 - F - Taiwan - - - - - 1 Johan den Dunnen
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