Full data view for gene SGCB

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     

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     
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Both (homozygous) - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - DNA IHC, SEQ-NG, Western - - LGMDR4;LGMD2E - PubMed: Semplicini 2015, Journal: Semplicini 2015 No history family - - - Italian - - - - 1 Jamie Zeegers
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - DNA IHC, SEQ-NG, Western - - LGMDR4;LGMD2E - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - - - - 1 Jamie Zeegers
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - DNA IHC, SEQ-NG, Western - - LGMDR4;LGMD2E - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - - - - 1 Jamie Zeegers
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - DNA IHC, SEQ-NG, Western - - LGMDR4;LGMD2E - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italian - - - - 1 Jamie Zeegers
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003 - - Germline - - - - - DNA SSCA - - MD - PubMed: Barresi 2000, OMIM:var0003 with DCM, paternal cousin of SGCB_00003aa M no Italy - 27y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan second degree cousins of 16934466-IV.1 and mother III.4, 4 generation family; 31 in Duggan 1997 F - Italy - >21y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan second degree cousins of 16934466-IV.1 and mother III.4, 4 generation family; 31 in Duggan 1997 F - Italy - >21y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Fanin 2003, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Fanin 2003, OMIM:var0003 - F - Italy - >27y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Fanin 2003, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Fanin 2003, OMIM:var0003 - F - Italy - >27y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003 - - Germline - - - - - DNA SSCA - - MD - PubMed: Barresi 2000, OMIM:var0003 paternal cousin of SGCB_00003# F - Italy - >28y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003 - - Germline - - - - - DNA SSCA - - MD - PubMed: Barresi 2000, OMIM:var0003 paternal cousin of SGCB_00003# F - Italy - >28y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Bonnemann, PubMed: Duggan, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MD - PubMed: Bonnemann, PubMed: Duggan, OMIM:var0003 - F - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Fanin 2003, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Fanin 2003, OMIM:var0003 deceased of cardiac failure M - Italy - 14y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Fanin 2003, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Fanin 2003, OMIM:var0003 - F - Italy - >9y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Barresi 2000, OMIM:var0003 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Barresi 2000, OMIM:var0003 - M - Italy - 18y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan second degree cousins of 16934466-IV.4 and relative III.4, 4 generation family; 31 in Duggan 1997 M - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan second degree cousins of 16934466-IV.4 and relative III.4, 4 generation family; 31 in Duggan 1997 M - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.377_384dup p.Gly129Glnfs*2 Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - ? - PubMed: Duggan second degree cousins of 16934466-IV.4 and relative III.4, 4 generation family; 31 in Duggan 1997 M yes Italy - >36y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034f-I.2 M - Italy - >10y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034f-I.2 M - Italy - >10y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034f-I.1 F - Italy - >7y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034f-I.1 F - Italy - >7y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >31y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >31y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) Parent #2 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >14y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2†) Parent #1 - pathogenic g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >7y - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Both (homozygous) - pathogenic (recessive) g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam83Pat1/2 PubMed: Magri 2015 family, 2 affected (F, M) F;M - Italy - - - - - 2 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Both (homozygous) - pathogenic (recessive) g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam84Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.377_384dup r.(?) p.(Gly129Glnfs*2) Both (homozygous) - pathogenic (recessive) g.52895890_52895897dup g.52029724_52029731dup - - SGCB_000003 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam86Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
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