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.

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/. 1 c.-10_22dup r.(?) p.(Ala8AspfsTer24) - pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - 0 - Jamie Zeegers
+/. 1 c.-10_22dup r.(?) p.(Ala8AspfsTer24) - likely pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - 0 - Jamie Zeegers
+/. 1 c.-10_22dup r.(?) p.(Ala8AspfsTer24) - pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - 0 - Jamie Zeegers
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - 0 - Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - 0 - Gabriele Dekomien
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Boito - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Boito - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Fanin 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Fanin 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 10-22_10dup32 - SGCB_000031 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 10-22_10dup32 - SGCB_000031 - PubMed: Trabelsi 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - 0 - Johan den Dunnen
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