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.

9 entries on 1 page. Showing entries 1 - 9.
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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.355A>T r.355a>u p.Ile119Phe - pathogenic g.52895918T>A g.52029752T>A - - SGCB_000017 - PubMed: Duclos 1998 - - Germline - - Sau3A- 0 - Johan den Dunnen
?/. 3 c.355A>T r.(?) p.(Ile119Phe) - VUS g.52895918T>A g.52029752T>A - - SGCB_000017 Note that both variants have been reported as pathogenic by others (Duggan 1997 and Duclos 1998) - - - Germline - - - 0 - Tom Winder
?/. 3 c.355A>T r.(?) p.(Ile119Phe) - VUS g.52895918T>A g.52029752T>A - - SGCB_000017 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.355A>T r.(?) p.(Ile119Phe) - VUS g.52895918T>A g.52029752T>A - - SGCB_000017 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.355A>T r.(?) p.(Ile119Phe) - VUS g.52895918T>A g.52029752T>A - - SGCB_000017 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.355A>T r.(?) p.(Ile119Phe) ACMG pathogenic g.52895918T>A g.52029752T>A - - SGCB_000017 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - 0 - Johan den Dunnen
+?/. 3 c.355A>T r.(?) p.(Ile119Phe) - likely pathogenic g.52895918T>A g.52029752T>A - - SGCB_000017 - MDCRC 2021, submitted - - Germline/De novo (untested) - - - 0 - Lakshmi Bremadesam
?/. 3 c.355A>T r.(?) p.(Ile119Phe) - VUS g.52895918T>A g.52029752T>A - - SGCB_000017 - PubMed: Patel 2021 - rs762412447 Germline - - - 0 - Johan den Dunnen
?/. 3 c.355A>T r.(?) p.(Ile119Phe) - VUS g.52895918T>A g.52029752T>A - - SGCB_000017 - PubMed: Patel 2021 - rs762412447 Germline - - - 0 - Johan den Dunnen
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