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.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 2 c.85A>T r.(?) p.(Arf29*) - pathogenic g.52899755T>A g.52033589T>A - - SGCB_000022 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. 2 c.85A>T r.(?) p.(Arg29*) - pathogenic g.52899755T>A g.52033589T>A - - SGCB_000022 - PubMed: Cagliani - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.85A>T r.(?) p.(Arg29*†) - pathogenic g.52899755T>A g.52033589T>A - - SGCB_000022 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.85A>T r.(?) p.(Arg29*) - pathogenic g.52899755T>A g.52033589T>A - - SGCB_000022 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.85A>T r.(?) p.(Arg29*) - pathogenic (recessive) g.52899755T>A g.52033589T>A - - SGCB_000022 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
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