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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 1 c.1A>G r.(?) p.(Met1?) - pathogenic g.52904425T>C g.52038259T>C Met1? - SGCB_000091 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. - c.1A>G r.(?) p.(Met1?) - pathogenic g.52904425T>C g.52038259T>C - - SGCB_000091 ACMG PVS1 PS4-M PM2 PP3 PP5; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - 0 - Johan den Dunnen
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