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.

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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.36_37delinsG r.(?) p.(Ser13Valfs*6) - pathogenic g.52899803_52899804delinsC g.52033637_52033638delinsC - - SGCB_000092 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
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