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.

6 entries on 1 page. Showing entries 1 - 6.
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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.265G>A r.(?) p.(Val89Met) - pathogenic g.52896008C>T g.52029842C>T - - SGCB_000029 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. 3 c.265G>A r.(?) p.(Val89Met) - pathogenic g.52896008C>T g.52029842C>T - - SGCB_000029 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.265G>A r.(?) p.(Val89Met) - pathogenic g.52896008C>T g.52029842C>T - - SGCB_000029 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.265G>A r.(?) p.(Val89Met) - pathogenic g.52896008C>T g.52029842C>T - - SGCB_000029 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.265G>A r.(?) p.(Val89Met) - pathogenic g.52896008C>T g.52029842C>T - - SGCB_000029 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - 0 - Johan den Dunnen
+/. - c.265G>A r.(?) p.(Val89Met) - pathogenic (recessive) g.52896008C>T g.52029842C>T - - SGCB_000029 - PubMed: Yis 2018 - - Germline - - - 0 - Johan den Dunnen
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