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     
+/. 2i c.243+1576C>G r.243_244ins243+1470_243+1575 p.Ile82Leufs*24 ACMG pathogenic (recessive) g.52898021G>C - - - SGCB_000167 ACMG PVS1, PM2, PP4 PubMed: Xie 2022, Journal: Xie 2022 - - Germline - - - 0 - Johan den Dunnen
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