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     
+?/. - c.356T>A r.(?) p.(Ile119Asn) ACMG likely pathogenic g.52895917A>T g.52029751A>T - - SGCB_000098 ACMG grading: PM2, PM5, PP2, PP3; additional variants in PLEC x2, TRAPPC11, HSPG2 x2, TTN PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen
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