Full data view for gene SGCB

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1_1i c.-22_(33+1_34-1)dup r.(?) p.? Parent #2 - pathogenic g.(52899807_52904392)_52904447dup - 10(-22_33+?dup) - SGCB_000073 duplication <4.5 Kb PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - - - - 2 Johan den Dunnen
+/. 1_1i c.-22_(33+1_34-1)dup r.(?) p.? Parent #1 - 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 - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - yes (France) - - - - - 1 Svetlana Kocheva
+/. 1_1i c.-22_(33+1_34-1)dup r.(?) p.? Parent #2 - pathogenic g.(52899807_52904392)_52904447dup - 10(-22_33+?dup) - SGCB_000073 duplication <4.5 Kb PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008, PubMed: Saillour 2008 - - - (France) - - - - - 1 Johan den Dunnen
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