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.

208 entries on 3 pages. Showing entries 1 - 100.
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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     
?/. 3 c.(229C>T) r.(229C>T) p.(Arg77Cys) Paternal (confirmed) - VUS g.48245014C>T g.50167653C>T - - SGCA_000003 knock-in mouse model; correctly processed, transported to the sarcolemma, fully functional in mouse muscle PubMed: Kobuke 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Kobuke 2008 no apperent phenotype; restores KO-mutation - - - - - - - - 1 Johan den Dunnen
?/. 3 c.(229C>T) r.(229C>T) p.(Arg77Cys) Maternal (confirmed) - VUS g.48245014C>T g.50167653C>T - - SGCA_000003 knock-in mouse model; correctly processed, transported to the sarcolemma, fully functional in mouse muscle PubMed: Kobuke 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Kobuke 2008 no apperent phenotype; restores KO-mutation - - - - - - - - 1 Johan den Dunnen
+/. 3 c.(229C>T) r.0 p.0 Both (homozygous) - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 knock-in mouse model; NEO-cassette in intron 4 PubMed: Kobuke 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Kobuke 2008 - - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.229C>T r.(?) p.(Arg77Cys) Both (homozygous) - pathogenic g.48245014C>T g.50167653C>T 299C>T - SGCA_000003 - PubMed: Cerevolo 2014, Journal: Cerevolo 2014 - - Germline yes - - - - DNA SEQ - - LGMD2 23989969-Pat PubMed: Cerevolo 2014, Journal: Cerevolo 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Unknown - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - from website {DBsub-Emory} - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Unknown - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Norway - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Spain - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA DHPLC, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Norway - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Spain - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - - - - Germline - - - - - DNA DHPLC, SEQ, MLPA - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - {DB: Newcastle} - - Germline - - NlaIV- - - DNA HD, SSCA - - LGMD - {DB: Newcastle} - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 aberrant band exon 2, no variant identified PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SSCA - - BMD/DMD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Duggan - - - - Europe - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - {DB: Porto} - - Germline - - NlaIV- - - DNA SSCA - - DMD - - - M - Portugal - - - - - 1 Rosário dos Santos
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, OMIM:var0003 - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Bueno 1995 - - - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: Eymard 1997, PubMed: Crosbie 2000, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMDR5;LGMD2C - PubMed: Eymard 1997, PubMed: Crosbie 2000 - F no France Europe - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - - Germany - - - - - 2 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - - Germany - - - - - 2 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - - France - - - - - 7 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - - France - - - - - 7 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - - United States - - - - - 4 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Piccolo, PubMed: CarriÈ, OMIM:var0003 - - - United States - - - - - 4 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Piccolo, PubMed: CarriÈ, PubMed: Eymard 1997, OMIM:var0003 - - Germline - - NlaIV- - - DNA DGGE - - LGMDR5;LGMD2C - PubMed: Eymard 1997 - M no France Europe - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SSCA - - BMD/DMD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SSCA - - BMD/DMD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SSCA - - BMD/DMD - PubMed: Duggan - - - - United States/Italy - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Schara - - Germline - - NlaIV- - - DNA SEQ - - BMD/DMD - PubMed: Schara - M - Russia - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Carrie 1997 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - - France/Italy - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Carrie 1997 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - - France/Italy - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Carrie 1997 - - Germline - - NlaIV- - - DNA DGGE - - BMD/DMD - PubMed: Carrie 1997 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Duggan - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Duggan - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Kawai, OMIM:var0003 - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Kawai - F - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Kawai, OMIM:var0003 - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Kawai - F - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, PubMed: Bueno 1995, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, PubMed: Bueno 1995, OMIM:var0003 5 affecteds (1M, 4F) - - Brazil - - - - - 5 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, PubMed: Bueno 1995, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, PubMed: Bueno 1995, OMIM:var0003 5 affecteds (1M, 4F) - - Brazil - - - - - 5 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Both (homozygous) - pathogenic (recessive) g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Ginjaar 2000 - - Germline - - NlaIV- - - DNA SEQ - - LGMD Pat3 PubMed: Ginjaar 2000 - F ? Netherlands - >18y - - - 1 Ieke Ginjaar
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Urtasun, PubMed: Urtasun 1998 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Urtasun, PubMed: Urtasun 1998 - F - Spain Basque - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Urtasun, PubMed: Urtasun 1998 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Urtasun, PubMed: Urtasun 1998 - F - Spain Basque - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Carrie 1997 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Carrie 1997 - - Germline - - NlaIV- - - DNA DGGE - - LGMD - PubMed: Carrie 1997 - - - France - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Duggan - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Duggan - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Duggan - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.229c>u p.Arg77Cys Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Boito - - Germline - - NlaIV- - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Boito - F - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic (recessive) g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Ginjaar 2000 - - Germline - - NlaIV- - - DNA SEQ - - LGMD Pat4 PubMed: Ginjaar 2000 - F ? Netherlands - >22y - - - 1 Ieke Ginjaar
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 sister LG30.1 - - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 sister LG30.1 - - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 sister LG30.2 - - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 sister LG30.2 - - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 male, female patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 male, female patient - - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 2 affecteds (1M, 4F) - - Brazil - - - - - 2 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 2 affecteds (1M, 4F) - - Brazil - - - - - 2 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #1 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 3 c.229C>T r.(?) p.(Arg77Cys) Parent #2 - pathogenic g.48245014C>T g.50167653C>T - - SGCA_000003 - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Bueno 1995, PubMed: Moreira 2003, OMIM:var0003 - M - Brazil - - - - - 1 Johan den Dunnen
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