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.

4 entries on 1 page. Showing entries 1 - 4.
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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_16dup r.(?) p.(Ala6AspfsTer24) - likely pathogenic g.52904417_52904442dup g.52038251_52038276dup -10_16dup26 - SGCB_000083 - - - - Germline - - - 0 - Tom Winder
+/. 1 c.-10_16dup r.(?) p.(Ala6AspfsTer24) - pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup -10_16dup26 - SGCB_000083 - PubMed: Mojbafan 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.-10_16dup r.(?) p.(Ala6Aspfs*24) ACMG pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup - - SGCB_000083 - PubMed: Mojbafan 2020 - - Germline - - - 0 - Johan den Dunnen
+/. - c.-10_16dup r.(?) p.(Ala6Aspfs*24) ACMG pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup - - SGCB_000083 - PubMed: Mojbafan 2020 - - Germline - - - 0 - Johan den Dunnen
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