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.
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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     
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - 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
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP8 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >40y - - - 1 Pieter Klap
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - MMD 25868377 NP16 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >22y - - - 1 Pieter Klap
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP18 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >20y - - - 1 Pieter Klap
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - MMD 25868377 NP19 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >50y - - - 1 Pieter Klap
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - 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
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP22 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >34y - - - 1 Pieter Klap
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - 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
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - LGMD 25868377 NP24 PubMed: Shin 2015, Journal: Shin 2015 - F - (Korea, South (Republic)) - >40y - - - 1 Pieter Klap
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - DNA SEQ - - ? 25868377 NP26 PubMed: Shin 2015, Journal: Shin 2015 - M - (Korea, South (Republic)) - >21y - - - 1 Pieter Klap
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - 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
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - 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
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 not in 100 control chromosomes PubMed: Cho 2006 - - Germline - - - - - DNA SEQ - - MMD Pat1 PubMed: Cho 2006 - F;M - Korea, South (Republic) - - - - - 2 Johan den Dunnen
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 not in 100 control chromosomes PubMed: Cho 2006 - - Germline - - - - - DNA SEQ - - MMD Pat2 PubMed: Cho 2006 - F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034c-XXI.2 F - Italy - >24y - - - 1 Johan den Dunnen
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034c-XXI.2 F - Italy - >24y - - - 1 Johan den Dunnen
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034c-XXI.1 M - Italy - >26y - - - 1 Johan den Dunnen
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Guglieri 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034c-XXI.1 M - Italy - >26y - - - 1 Johan den Dunnen
+/. - c.2494C>T r.(?) p.(Gln832*) Parent #1 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs199543257 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys168-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. - c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs199543257 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys215-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+?/. - c.2494C>T r.(?) p.(Gln832*) Parent #1 - likely pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat58 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+?/. - c.2494C>T r.(?) p.(Gln832*) Parent #2 - likely pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat147 PubMed: Park 2017 - M - Korea - - - - - 1 Johan den Dunnen
+?/. - c.2494C>T r.(?) p.(Gln832*) Parent #2 - likely pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - 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.2494C>T r.(?) p.(Gln832*) Parent #2 - likely pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat162 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Cacciottolo 2011 - - Germline - - - - - DNA DHPLC, SEQ - - MD PatX300 PubMed: Cacciottolo 2011 - - - Italy - - - - - 1 Johan den Dunnen
+/. 24 c.2494C>T r.(?) p.(Gln832*) Both (homozygous) - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - Izumi 2020 (submitted) - - Germline - - - - - DNA SSCA, SEQ - - MD Dys-95 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 24 c.2494C>T r.(?) p.(Gln832*) Parent #2 - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Dys-190 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 24 c.2494C>T r.(?) p.(Gln832*) Both (homozygous) - pathogenic (recessive) g.71791326C>T g.71564196C>T - - DYSF_000282 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam53Pat1/2 PubMed: Magri 2015 family, 2 affected (F, M) F;M - Italy - - - - - 2 Johan den Dunnen
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