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     
-/. 2i c.244-21T>C r.(?) p.(=) - benign g.52896050A>G g.52029884A>G - - SGCB_000025 - from website {DBsub-Emory} - rs225170 Unknown - - - 0 - Madhuri Hegde
-/. 2i c.244-21T>C r.(?) p.(=) - benign g.52896050A>G g.52029884A>G - - SGCB_000025 - from website {DBsub-Emory} - rs225170 Unknown - - - 0 - Madhuri Hegde
-/. 2i c.244-21T>C r.(=) p.(=) - benign g.52896050A>G g.52029884A>G - - SGCB_000025 - PubMed: Sylvius - rs225170 Germline - 0.55 - 0 - Johan den Dunnen
-/. 2i c.244-21T>C r.(=) p.(=) - benign g.52896050A>G g.52029884A>G - - SGCB_000025 - PubMed: Barresi 2000 - rs225170 Germline - ? - 0 - Johan den Dunnen
-/. 2i c.244-21T>C r.(=) p.(=) - benign g.52896050A>G g.52029884A>G - - SGCB_000025 - - - rs225170 Germline - - - 0 - Ieke Ginjaar
-?/. 2i c.244-21T>C r.(=) p.(=) - likely benign g.52896050A>G g.52029884A>G 224-21T>C - SGCB_000025 parents homozygous - - rs225170 Germline - - - 0 - Johan den Dunnen
-/. 2i c.244-21T>C r.(=) p.(=) ACMG benign g.52896050A>G g.52029884A>G - - SGCB_000025 - - VCV000255605.4 - Germline/De novo (untested) - - - - - Micaela Carcione
-/. 2i c.244-21T>C r.(=) p.(=) - benign g.52896050A>G g.52029884A>G - - SGCB_000025 - - 255605 - Germline/De novo (untested) - - - - - Micaela Carcione
-/. 2i c.244-21T>C r.(=) p.(=) - benign g.52896050A>G g.52029884A>G - - SGCB_000025 - - 255605 - Germline/De novo (untested) - - - 0 - Micaela Carcione
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