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.

15 entries on 1 page. Showing entries 1 - 15.
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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.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - - - DNA SEQ - - LGMD - Dincer 2004, Acta Myologica XXIII: 67 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #2 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - Dincer 2004, Acta Myologica XXIII: 67 - - Germline - - - - - DNA SEQ - - LGMD - Dincer 2004, Acta Myologica XXIII: 67 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic (recessive) g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Ginjaar 2000 - - Germline - - - - - DNA SEQ - - LGMD Pat32 PubMed: Ginjaar 2000 - F - Netherlands - >28y - - - 1 Ieke Ginjaar
+/. 1 c.31C>T r.31c>t p.Gln11* Parent #1 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #2 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Love - - Germline - - - - - DNA DHPLC - - MD - PubMed: Love - M - India - >12y - - - 1 Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #2 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #2 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #2 - pathogenic g.52904395G>A g.52038229G>A Q11X - SGCB_000010 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - - - United States - - - - - 1 Tom Winder
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M no United States white - - - - 1 Vikki Stefans
+/. 1 c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.31C>T r.(?) p.(Gln11*) Both (homozygous) - pathogenic (recessive) g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic (recessive) g.52904395G>A g.52038229G>A - - SGCB_000010 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.31C>T r.(?) p.(Gln11*) Unknown - pathogenic g.52904395G>A - - - SGCB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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