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.

16 entries on 1 page. Showing entries 1 - 16.
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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     
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #1 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 126/LGMD 20535123-PatV PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M yes Portugal - >30y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #2 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 126/LGMD 20535123-PatV PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M yes Portugal - >30y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #1 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 20535123-PatI PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M no Portugal - >34y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #2 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 20535123-PatI PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M no Portugal - >34y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Maternal (confirmed) - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 134/LGMD 20535123-PatIII PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M - Portugal - >23y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #1 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 20535123-PatII PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M no Portugal - >48y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #2 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 20535123-PatII PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M no Portugal - >48y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #1 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 20535123-PatVI PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M yes Portugal - >25y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #2 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 20535123-PatVI PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M yes Portugal - >25y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #1 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 20535123-PatVII PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M yes Portugal - >21y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #2 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD 20535123-PatVII PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M yes Portugal - >21y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #1 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD - PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M yes Portugal - >19y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.[5341_5429del, 5341_5525del, 5341_5667del] p.[Gly11781Valfs*17, Gly1781Leufs*6, Gly1781_Lys1889del] Parent #2 - pathogenic (recessive) g.71895972G>A g.71668842G>A 5492G>A - DYSF_000130 mRNA from peripheral blood/muscle; not in 240 control chromosomes PubMed: Santos 2010 - - Germline - - HphI- - - DNA, RNA SEQ, RT-PCR - - LGMD - PubMed: Santos 2010 ancestry from the same region of Portugal - all within a radius of 20 km M yes Portugal - >19y - - - 1 Rosário dos Santos
+/. 48 c.5429G>A r.(?) p.(Arg1810Lys) Unknown - pathogenic (recessive) g.71895972G>A g.71668842G>A - - DYSF_000130 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 48 c.5429G>A r.(?) p.(Arg1810Lys) Parent #1 - pathogenic (recessive) g.71895972G>A g.71668842G>A - - DYSF_000130 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.5429G>A r.(?) p.(Arg1810Lys) Unknown - likely pathogenic g.71895972G>A g.71668842G>A - - DYSF_000130 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
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