Full data view for gene SGCB

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 1 c.-10_16dup r.(?) p.(Ala6AspfsTer24) Parent #1 - likely pathogenic g.52904417_52904442dup g.52038251_52038276dup -10_16dup26 - SGCB_000083 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - United States white - - - - 1 Tom Winder
+/. 1 c.-10_16dup r.(?) p.(Ala6AspfsTer24) Both (homozygous) - pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup -10_16dup26 - SGCB_000083 - PubMed: Mojbafan 2016 - - Germline yes - - - - DNA arraySNP, SEQ - - LGMD - PubMed: Mojbafan 2016 4-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - - - - 6 Johan den Dunnen
+/. - c.-10_16dup r.(?) p.(Ala6Aspfs*24) Both (homozygous) ACMG pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup - - SGCB_000083 - PubMed: Mojbafan 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam30Pat1 PubMed: Mojbafan 2020 2-generation family, 2 affected - - Iran - - - - - 2 Johan den Dunnen
+/. - c.-10_16dup r.(?) p.(Ala6Aspfs*24) Both (homozygous) ACMG pathogenic (recessive) g.52904417_52904442dup g.52038251_52038276dup - - SGCB_000083 - PubMed: Mojbafan 2020 - - Germline - - - - - DNA SEQ - - LGMD Fam30Pat2 PubMed: Mojbafan 2020 - - - Iran - - - - - 1 Johan den Dunnen
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