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.

17 entries on 1 page. Showing entries 1 - 17.
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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_22dup r.(?) p.(Ala8AspfsTer24) Both (homozygous) - pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - - - DNA IHC, SEQ-NG, Western - - LGMD2E;LGMDR4 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Tunisia - - - - 1 Jamie Zeegers
+/. 1 c.-10_22dup r.(?) p.(Ala8AspfsTer24) Both (homozygous) - likely pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - - - DNA IHC, SEQ-NG, Western - - LGMD2E;LGMDR4 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Ivory Coast - - - - 1 Jamie Zeegers
+/. 1 c.-10_22dup r.(?) p.(Ala8AspfsTer24) Both (homozygous) - pathogenic g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline yes - - - - DNA IHC, SEQ-NG, Western - - LGMD2E;LGMDR4 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Italy - - - - 1 Jamie Zeegers
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #1 - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #1 - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #2 - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #2 - VUS g.52904416_52904447dup g.52038250_52038281dup - - SGCB_000031 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? Parent #1 - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Boito - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Boito - M - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? Parent #2 - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Boito - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Boito - M - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? Parent #1 - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Fanin 2003 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Fanin 2003 - M - Italy - >37y - - - 1 Johan den Dunnen
+/. 1 c.-10_22dup r.-22_10dup p.(Ala8Glyfs*22)? Parent #2 - pathogenic g.52904416_52904447dup g.52038250_52038281dup -22_10dup - SGCB_000031 - PubMed: Fanin 2003 - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Fanin 2003 - M - Italy - >37y - - - 1 Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #1 - pathogenic g.52904416_52904447dup g.52038250_52038281dup 10-22_10dup32 - SGCB_000031 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - - - - 2 Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #2 - pathogenic g.52904416_52904447dup g.52038250_52038281dup 10-22_10dup32 - SGCB_000031 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - - (France) - - - - - 2 Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #1 - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 relative of 18996010.12b - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #2 - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 relative of 18996010.12b - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #1 - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 relative of 18996010.12a - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 1 c.-10_22dup r.(?) p.(Ala8Glyfs*22)? Parent #2 - pathogenic g.52904416_52904447dup g.52038250_52038281dup 23_54ins - SGCB_000031 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 relative of 18996010.12a - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
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