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.

3 entries on 1 page. Showing entries 1 - 3.
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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.112_113del r.(?) p.(Ser38*) - pathogenic g.52899727_52899728del g.52033561_52033562del - - SGCB_000076 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.112_113del r.(?) p.(Ser38*) - pathogenic g.52899727_52899728del g.52033561_52033562del - - SGCB_000076 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.112_113del r.(?) p.(Ser38*) - pathogenic (recessive) g.52899727_52899728del g.52033561_52033562del 112_113delCT - SGCB_000076 - PubMed: Saha 2018, Journal: Saha 2018 - - Germline yes - - 0 - Johan den Dunnen
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