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+6T>A r.243_244insgugagaauuu p.Ile82Valfs*20 ACMG pathogenic (recessive) g.52899591A>T - - - SGCB_000166 ACMG PVS1, PM2, PP1, PP4 PubMed: Xie 2022, Journal: Xie 2022 - - Germline yes - - 0 - Johan den Dunnen
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