All variants in the SGCB gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000232.4 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Fanin 2003, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Fanin 2003, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Bonnemann, PubMed: Duggan, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Moreira 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Fanin 2003, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Fanin 2003, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic (recessive) g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic (recessive) g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) - pathogenic (recessive) g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
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