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.

27 entries on 1 page. Showing entries 1 - 27.
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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     
+/. 4 c.452C>G r.452c>g p.Thr151Arg - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - PubMed: Duclos 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.452C>G r.452c>g p.Thr151Arg - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - PubMed: Duclos 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.452C>G r.452c>g p.Thr151Arg - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - PubMed: Lim 1995, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.452C>G r.452c>g p.Thr151Arg - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - PubMed: Lim 1995, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.452C>G r.452c>g p.Thr151Arg - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - PubMed: Duclos 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.452C>G r.452c>g p.Thr151Arg - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - PubMed: Duclos 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - Pyatt ASHG2008-P304 - - Uniparental disomy - - - 0 - Johan den Dunnen
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - Pyatt ASHG2008-P304 - - Uniparental disomy - - - 0 - Johan den Dunnen
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 - - - - Germline - - - 0 - Tom Winder
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 4 c.452C>G r.(?) p.(Thr151Arg) - pathogenic g.52895065G>C g.52028899G>C - - SGCB_000001 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
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