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.

3 entries on 1 page. Showing entries 1 - 3.
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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_1i c.-22_(33+1_34-1)dup r.(?) p.? - pathogenic g.(52899807_52904392)_52904447dup - 10(-22_33+?dup) - SGCB_000073 duplication <4.5 Kb PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1_1i c.-22_(33+1_34-1)dup r.(?) p.? - pathogenic g.(52899807_52904392)_52904447dup - 10(-22_33+?dup) - SGCB_000073 duplication <4.5 Kb; unknown variant 2nd chromosome PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Svetlana Kocheva
+/. 1_1i c.-22_(33+1_34-1)dup r.(?) p.? - pathogenic g.(52899807_52904392)_52904447dup - 10(-22_33+?dup) - SGCB_000073 duplication <4.5 Kb PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - 0 - Johan den Dunnen
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