Full data view for gene SGCA

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000023.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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     
+/. 6 c.739G>A r.(?) p.(Val247Met) Both (homozygous) ACMG pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMDR3;LGMD2D - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 6 c.739G>A r.(?) p.(Val247Met) Both (homozygous) ACMG pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMDR3;LGMD2D - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - VUS g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 potential glycosylation site PubMed: Piccolo, PubMed: CarriÈ, PubMed: Eymard 1997 - - Germline - - BsrDI- - - DNA DGGE - - LGMDR5;LGMD2C - PubMed: Eymard 1997 - M no Italy Europe - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 unknown pathogenic variant 2nd chromosome PubMed: Piccolo, PubMed: Eymard 1997, PubMed: Crosbie 2000 - - Germline - - BsrDI- - - DNA DGGE - - LGMDR5;LGMD2C - PubMed: Eymard 1997, PubMed: Crosbie 2000 sister of 11-JO.1 F - France Europe - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 affects potential N-linked glycosylation site; unknown pathogenic variant 2nd chromosome PubMed: Piccolo, PubMed: Eymard 1997 - - Germline - - BsrDI- - - DNA DGGE - - LGMDR5;LGMD2C - PubMed: Eymard 1997 sister of 11-JO.2 F - France Europe - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 affects potential N-linked glycosylation site PubMed: Moreira 2003 - - Germline - - BsrDI- - - DNA SEQ - - LGMD - PubMed: Moreira 2003 sister LG86.1 F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 affects potential N-linked glycosylation site PubMed: Moreira 2003 - - Germline - - BsrDI- - - DNA SEQ - - LGMD - PubMed: Moreira 2003 brother LG86.2 M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic (recessive) g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >44y - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >34y - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >34y - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 affects potential N-linked glycosylation site PubMed: Walter 2004, Walter 2004, Acta Myologica XXIII: 1-5 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Walter 2004, Walter 2004, Acta Myologica XXIII: 1-5 brother of 15298081.2 M - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 affects potential N-linked glycosylation site PubMed: Walter 2004, Walter 2004, Acta Myologica XXIII: 1-5 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Walter 2004, Walter 2004, Acta Myologica XXIII: 1-5 brother of 15298081.1 M - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.739G>A r.(?) p.(Val247Met) Unknown - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - United States - - - - - 1 Tom Winder
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.739G>A p.Val247Met Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Trabelsi 2008 - - ? (France) - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 relative of 18996010.6b - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 relative of 18996010.6a - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - ESHG2010 Stehlikova P2.117 - - Germline - - - - - DNA SEQ - - LGMD - ESHG2010 Stehlikova P2.117 - - - Czech Republic - - - - - 1 Jana Zidkova
+/. 6 c.739G>A r.(?) p.(Val247Met) Unknown - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 variant affects potential glycosylation site - - - Germline ? - BsrDI- - - DNA SEQ - - hCK - - - F ? (Italy) white - - - - 1 Marina Fanin
+/. 5 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Reddy 2016, Journal: Reddy 20166 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES LGMD 26934379-Fam1280 PubMed: Reddy 2016, Journal: Reddy 20166 3-generation family, 4 affecteds (F, 3M), unaffected parents/relatives F;M - Egypt - - - - - 4 Sherifa Ahmed Hamed
+?/. - c.739G>A r.(?) p.(Val247Met) Parent #1 ACMG likely pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 ACMG grading: PS3, PM3, PP2, PP3, PP5; additional variants in COL6A1, COL6A2, MYH2, LDB3/ZASP, POMT1 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat21 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.739G>A r.(?) p.(Val247Met) Parent #1 - likely pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143570936 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.739G>A r.(?) p.(Val247Met) Unknown - pathogenic (recessive) g.48246607G>A g.50169246G>A - - SGCA_000009 - - - rs143570936 Germline/De novo (untested) - - - - - DNA SEQ-NG - - LGMDR3;LGMD2D - - compound heterozygous patient M - Greece - 14y - - - 1 Helen Latsoudis
+/. 6 c.739G>A r.(?) p.(Val247Met) Both (homozygous) - pathogenic (recessive) g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam74Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.739G>A r.(?) p.(Val247Met) Both (homozygous) - pathogenic (recessive) g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam81Pat1/2/3 PubMed: Magri 2015 family, 2 affected (3F) F - Italy - - - - - 3 Johan den Dunnen
+/. - c.739G>A r.(?) p.(Val247Met) Parent #2 - pathogenic (recessive) g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.739G>A r.(?) p.(Val247Met) Unknown - likely pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. 5 c.739G>A r.(?) p.(Val247Met) Unknown - pathogenic (recessive) g.48246607G>A - - - SGCA_000009 - Luce 2021, submitted - - Unknown - - - - - DNA SEQ-NG-I BLOOD - MD #672 Luce 2021, submitted - M - Argentina - - - - - 1 Florencia Giliberto
+/. 6 c.739G>A r.(?) p.(Val247Met) Unknown - pathogenic (recessive) g.48246607G>A g.50169246G>A - - SGCA_000009 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - LGMD 672 - - M no Argentina - - - - - 1 Micaela Carcione
+/. - c.739G>A r.(?) p.(Val247Met) Paternal (confirmed) - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 no variant 2nd chromosome PubMed: Cavdarli 2023 - rs143570936 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD U23 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients, unsolved M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.739G>A r.(?) p.(Val247Met) Paternal (confirmed) - pathogenic g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Cavdarli 2023 - rs143570936 Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD U23 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.739G>A r.(?) p.(Val247Met) Parent #1 - pathogenic (recessive) g.48246607G>A g.50169246G>A - - SGCA_000009 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat84 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
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