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.

96 entries on 1 page. Showing entries 1 - 96.
Legend   How to query  

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     
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - 0 - Jamie Zeegers
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Love - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.341c>u p.Ser114Phe - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.341c>u p.Ser114Phe - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Duggan - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.341c>u p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ginjaar 2000 - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.341c>u p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ginjaar 2000 - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - Ginjaar WMS2005 - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - Ginjaar WMS2005 - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ginjaar 2000 - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - {DB: Newcastle} - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 unknown variant 2nd chromosome PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 unknown variant 2nd chromosome PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 3 c.341C>T r.(=) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Wong-Kisiel 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(=) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Wong-Kisiel 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(=) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Wong-Kisiel 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(=) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Wong-Kisiel 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Tom Winder
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - 0 - Vikki Stefans
+/. - c.341C>T r.(?) p.(Ser114Phe) ACMG pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 ACMG grading: PS3, PS4, PP2, PP3; additional variants in PLEC x2, TRAPPC11, HSPG2 x2, TTN PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.341C>T r.(?) p.(Ser114Phe) ACMG pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 ACMG grading: PS3, PS4, PM3, PP2, PP3; additional variants in PLEC x2, TRAPPC11, B3GALNT2, HSPG2, SYNE1 PubMed: Fichna 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. - c.341C>T r.(?) p.(Ser114Phe) ACMG likely pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 ACMG grading: PS3, PM1 - - rs150518260 Germline - - - 0 - Andreas Laner
+/. 3 c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - 0 - Ieke Ginjaar
+?/. - c.341C>T r.(?) p.(Ser114Phe) - likely pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - Johan den Dunnen
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A - - - SGCB_000012 - - - rs150518260 CLASSIFICATION record - - - 0 - MobiDetails
+/. - c.341C>T r.(?) p.(Ser114Phe) - pathogenic g.52895932G>A - SGCB(NM_000232.4):c.341C>T (p.(Ser114Phe)) - SGCB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query