Full data view for gene SGCG

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000231.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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     
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015 - - Germline yes - - - - DNA -, PCR, SEQ-NG - - LGMDR5;LGMD2C 25802879-Fam1Pat1 PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/half-sisters F no Puerto Rico Hispanic >11y - - - 1 Jamie Zeegers
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015 - - Germline yes - - - - DNA PCR, SEQ-NG - - LGMDR5;LGMD2C 25802879-Fam2Pat2 PubMed: Al-Zaidy 2015, Journal: Al-Zaidy 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M yes Puerto Rico Puerto Rican >18y - - - 1 Jamie Zeegers
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Unknown - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - from website {DBsub-Emory} - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - VUS g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - VUS g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - VUS g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - pathogenic g.23898591G>A g.23324452G>A comphet - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - VUS g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - VUS g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - VUS g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - VUS g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - VUS g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 not in 200 control chromosomes PubMed: Duncan 2006, Kang WMS2005, OMIM:var0008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Duncan 2006, Kang WMS2005, OMIM:var0008 - F - Puerto Rico - >19y - - - 1 Johan den Dunnen
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 not in 200 control chromosomes PubMed: Duncan 2006, Kang WMS2005, OMIM:var0008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Duncan 2006, Kang WMS2005, OMIM:var0008 - F - Puerto Rico - >19y - - - 1 Johan den Dunnen
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 not in 200 control chromosomes PubMed: Duncan 2006, Kang WMS2005, OMIM:var0008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Duncan 2006, Kang WMS2005, OMIM:var0008 - M no Puerto Rico - >7y - - - 1 Johan den Dunnen
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 not in 200 control chromosomes PubMed: Duncan 2006, Kang WMS2005, OMIM:var0008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Duncan 2006, Kang WMS2005, OMIM:var0008 - M no Puerto Rico - >7y - - - 1 Johan den Dunnen
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - ? (France) - - - - - 1 Johan den Dunnen
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #2 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Parent #1 - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 8 c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic g.23898591G>A g.23324452G>A - - SGCG_000055 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.787G>A r.(?) p.(Glu263Lys) Both (homozygous) - pathogenic (recessive) g.23898591G>A g.23324452G>A - - SGCG_000055 - PubMed: Reddy 2017 - rs104894423 Germline - - - - - DNA SEQ, SEQ-NG - WES LGMD Fam1118 PubMed: Reddy 2017 - F - Puerto Rico Hispanic - - - - 1 Johan den Dunnen
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