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.

96 entries on 1 page. Showing entries 1 - 96.
Legend   How to query  

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     
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - DNA IHC, SEQ-NG, Western - - LGMD2E;LGMDR4 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Denmark - - - - 1 Jamie Zeegers
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - DNA IHC, SEQ-NG, Western - - LGMD2E;LGMDR4 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - Denmark - - - - 1 Jamie Zeegers
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Semplicini 2015, Journal: Semplicini 2015 - - Germline - - - - - DNA IHC, SEQ-NG, Western - - LGMD2E;LGMDR4 - PubMed: Semplicini 2015, Journal: Semplicini 2015 No family history - - - French - - - - 1 Jamie Zeegers
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA DHPLC, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
?/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - VUS g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Love - - Germline - - - - - DNA DHPLC - - ? - PubMed: Love - M - New Zealand - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.341c>u p.Ser114Phe Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.341c>u p.Ser114Phe Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.341c>u p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ginjaar 2000 - - Germline - - - - - DNA SEQ - - MD Pat6 PubMed: Ginjaar 2000 - F ? Netherlands - >11y - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.341c>u p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ginjaar 2000 - - Germline - - - - - DNA SEQ - - MD Pat24 PubMed: Ginjaar 2000 - F - Netherlands - >47y - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - Ginjaar WMS2005 - - Germline - - - - - DNA SEQ - - MD - Ginjaar WMS2005 - - no Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - Ginjaar WMS2005 - - Germline - - - - - DNA SEQ - - MD - Ginjaar WMS2005 - - no Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ginjaar 2000 - - Germline - - - - - DNA SEQ - - LGMD Pat32 PubMed: Ginjaar 2000 - F - Netherlands - >28y - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - {DB: Newcastle} - - Germline - - - - - DNA SSCA, HD - - LGMD - {DB: Newcastle} - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >26y - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >26y - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 unknown variant 2nd chromosome PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - ? (France) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 unknown variant 2nd chromosome PubMed: Klinge 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Klinge 2008 - - - (United Kingdom (Great Britain)) - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 3 c.341C>T r.(=) p.(Ser114Phe) Paternal (inferred) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Wong-Kisiel 2010 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Wong-Kisiel 2010 brother and sister; positive response deflazacort treatment F no United States - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(=) p.(Ser114Phe) Maternal (inferred) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Wong-Kisiel 2010 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Wong-Kisiel 2010 brother and sister; positive response deflazacort treatment F no United States - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(=) p.(Ser114Phe) Paternal (inferred) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Wong-Kisiel 2010 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Wong-Kisiel 2010 brother and sister; positive response deflazacort treatment M no United States - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(=) p.(Ser114Phe) Maternal (inferred) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Wong-Kisiel 2010 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Wong-Kisiel 2010 brother and sister; positive response deflazacort treatment M no United States - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - - - United States - - - - - 1 Tom Winder
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M no United States white - - - - 1 Vikki Stefans
+/. - c.341C>T r.(?) p.(Ser114Phe) Parent #1 ACMG pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 ACMG grading: PS3, PS4, PP2, PP3; additional variants in PLEC x2, TRAPPC11, HSPG2 x2, TTN PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat157 PubMed: Fichna 2018 - F - Poland - - - - - 1 Johan den Dunnen
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) ACMG pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 ACMG grading: PS3, PS4, PM3, PP2, PP3; additional variants in PLEC x2, TRAPPC11, B3GALNT2, HSPG2, SYNE1 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat201 PubMed: Fichna 2018 - F yes Poland - - - - - 1 Johan den Dunnen
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel CRS, LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Parent #1 - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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.341C>T r.(?) p.(Ser114Phe) Unknown ACMG likely pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 ACMG grading: PS3, PM1 - - rs150518260 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. 3 c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam82Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Both (homozygous) - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.341C>T r.(?) p.(Ser114Phe) Parent #2 - pathogenic (recessive) g.52895932G>A g.52029766G>A - - SGCB_000012 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+?/. - c.341C>T r.(?) p.(Ser114Phe) Unknown - likely pathogenic g.52895932G>A g.52029766G>A - - SGCB_000012 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
+/. - c.341C>T r.(?) p.(Ser114Phe) Unknown - pathogenic g.52895932G>A - - - SGCB_000012 - - - rs150518260 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.341C>T r.(?) p.(Ser114Phe) Unknown - pathogenic g.52895932G>A - SGCB(NM_000232.4):c.341C>T (p.(Ser114Phe)) - SGCB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query