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.

11 entries on 1 page. Showing entries 1 - 11.
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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 c.1_2del r.(?) p.0? Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.0? Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0?) Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0) Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - - - DNA DHPLC, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0) Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0?) Parent #2 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1 c.1_2del r.(?) p.(0?) Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 1 c.1_2del r.(?) p.(0?) Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 1 c.1_2del r.(?) p.0? Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1 c.1_2del r.(?) p.0? Parent #2 - pathogenic g.52904424_52904425del g.52038258_52038259del - - SGCB_000059 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1 c.1_2del r.(?) p.0? Parent #1 - pathogenic g.52904424_52904425del g.52038258_52038259del 1_2delAT - SGCB_000059 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel CRS, LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
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