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.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/. 3 c.271C>T r.271c>u p.Arg91Cys - pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Duclos 1998 - - Germline - - HinfI- 0 - Johan den Dunnen
+/. 3 c.271C>T r.271c>u p.Arg91Cys - pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Duclos 1998 - - Germline - - HinfI- 0 - Johan den Dunnen
+/. 3 c.271C>T r.271c>u p.Arg91Cys - pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Duclos 1998 - - Germline - - HinfI- 0 - Johan den Dunnen
+/. 3 c.271C>T r.271c>u p.Arg91Cys - pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Duclos 1998 - - Germline - - HinfI- 0 - Johan den Dunnen
+/. 3 c.271C>T r.271c>u p.Arg91Cys - pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Duclos 1998 - - Germline - - HinfI- 0 - Johan den Dunnen
+/. 3 c.271C>T r.271c>u p.Arg91Cys - pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Duclos 1998 - - Germline - - HinfI- 0 - Johan den Dunnen
+/. 3 c.271C>T r.271c>u p.(Arg91Cys) - pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Cagliani - - Germline - - HinfI- 0 - Johan den Dunnen
+/. 3 c.271C>T r.(?) p.(Arg91Cys†) - pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Guglieri 2007 - - Germline - - - 0 - Johan den Dunnen
+?/. 3 c.271C>T r.(?) p.(Arg91Cys) - likely pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.271C>T r.(?) p.(Arg91Cys) ACMG pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 ACMG: PS3,PM1,PM3,PM5,PP1,PP3; no second variant detected in SGCB; Duclos et al. 1998. Neuromuscular disorders : NMD 8: 30; Soheili et al. 2012. Hum Mutat 2: 429 - - rs555514820 Germline - - - 0 - Andreas Laner
+/. 3 c.271C>T r.(?) p.(Arg91Cys) - pathogenic (recessive) g.52896002G>A g.52029836G>A - - SGCB_000016 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
+?/. 3 c.271C>T r.(?) p.(Arg91Cys) - likely pathogenic g.52896002G>A g.52029836G>A - - SGCB_000016 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
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