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     
+/. 3 c.366_367del r.(?) p.(Tyr123*) ACMG pathogenic (recessive) g.52895906_52895907del g.52029740_52029741del 366_367delTT - SGCB_000144 ACMG PVS1, PM2, PP1, PP4 PubMed: Xie 2019 - - Germline - - - 0 - Johan den Dunnen
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