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.-18_8dup r.(?) p.(Ala4TrpfsTer18) - pathogenic g.52904422_52904447dup g.52038256_52038281dup 4-22_4dup26 - SGCB_000075 - PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Svetlana Kocheva
+/. 1 c.-18_8dup r.(?) p.(Ala4TrpfsTer18) - pathogenic g.52904422_52904447dup g.52038256_52038281dup 4-22_4dup26 - SGCB_000075 - PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Svetlana Kocheva
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