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.

152 entries on 2 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     
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 compound heterozygous - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.Phe175Leufs*20 Parent #2 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.525del p.Phe175Leufs*20 Parent #2 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA MLPA, SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.Phe175Leufs*20 Parent #2 - pathogenic g.23869573del g.23295434del 525delT - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD ? - - - - Germany - - - - - 1 Gabriele Dekomien
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Maternal (confirmed) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Dos Santos 2001 - - Germline - - - - - DNA SSCA - - BMD - PubMed: Dos Santos 2001 brother of 11693784.2 M - Portugal - - - - - 1 Rosário dos Santos
+/. 6 c.525del r.525del p.Phe175Leufs*20 Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally, PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: McNally, PubMed: Duggan - M - Israel Palestin - - - - 1 Johan den Dunnen
+/. 6 c.525del r.525del p.Phe175Leufs*20 Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally, PubMed: Duggan - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: McNally, PubMed: Duggan - M - Israel Palestin - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.Phe175Leufs*20 Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ben Othmane, PubMed: Ben Othmane 1995, PubMed: Noguchi 1995, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCARMD - PubMed: Ben Othmane, PubMed: Ben Othmane 1995, PubMed: Noguchi 1995, OMIM:var0001 muscle RNA - - Tunisia - - - - - 3 Johan den Dunnen
+/. 6 c.525del r.(=) p.Phe175Leufs*20 Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ben Othmane, PubMed: Ben Othmane 1995, PubMed: Noguchi 1995, OMIM:var0001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - SCARMD - PubMed: Ben Othmane, PubMed: Ben Othmane 1995, PubMed: Noguchi 1995, OMIM:var0001 muscle RNA - - Tunisia - - - - - 3 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 SGCA:c.157G>A in other part family FamTun.III PubMed: Fendri 2006 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Fendri 2006 first cousin parents M - Tunisia - >21y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 SGCA:c.157G>A in other part family FamTun.III PubMed: Fendri 2006 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Fendri 2006 first cousin parents M - Tunisia - >21y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic (recessive) g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally 1996, PubMed: Moreira 2003, PubMed: Passos-Bueno, OMIM:var0001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: McNally 1996, PubMed: Moreira 2003, PubMed: Passos-Bueno, OMIM:var0001 2 male, 1 female patient M - Brazil - - - - - 3 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally 1996, PubMed: Moreira 2003, PubMed: Passos-Bueno, OMIM:var0001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: McNally 1996, PubMed: Moreira 2003, PubMed: Passos-Bueno, OMIM:var0001 2 male, 1 female patient M - Brazil - - - - - 3 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Bonnemann - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Bonnemann - F - Australia - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Bonnemann - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Bonnemann - F - Australia - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - Goldberg, ASHG2004, P2640 - - Germline - - - - - DNA SEQ - - MD - Goldberg, ASHG2004, P2640 5 affecteds - - Israel Bedouin - - - - 5 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - Goldberg, ASHG2004, P2640 - - Germline - - - - - DNA SEQ - - MD - Goldberg, ASHG2004, P2640 5 affecteds - - Israel Bedouin - - - - 5 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic (recessive) g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ginjaar 2000, PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD Fam70Pat1/Pat6 PubMed: Ginjaar 2000, PubMed: Ten Dam 2019 - F - Morocco - >21y - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 4 affecteds (1M, 3F) F - Brazil - >15y - - - 4 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 4 affecteds (1M, 3F) F - Brazil - >15y - - - 4 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 affecteds 1M, 2F M - Brazil - >10y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 affecteds 1M, 2F M - Brazil - >10y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 4 affecteds (4F) F - Brazil - - - - - 4 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: McNally 1996, PubMed: Moreira 2003, OMIM:var0001 4 affecteds (4F) F - Brazil - - - - - 4 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 brother LG93.2 M - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 brother LG93.2 M - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 sister of LG94.2 F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 sister of LG94.2 F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Maternal (confirmed) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Takano - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Takano sister FamJapPat2 F - Japan - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Bonnemann - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Bonnemann - M - Australia - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 brother LG93.1 F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 brother LG93.1 F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 sister of LG94.1 F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Moreira 2003 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Moreira 2003 sister of LG94.1 F - Brazil - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Maternal (confirmed) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Takano - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Takano sister FamJapPat1 M - Japan Portugese - - - - 1 Johan den Dunnen
+/. 6 c.525del r.525del p.Phe175Leufs*20 Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Boito - - Germline - - - - - DNA, RNA RT-PCR, SSCA - - LGMD - PubMed: Boito - F - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Maternal (confirmed) - pathogenic (recessive) g.23869573del g.23295434del - - SGCG_000001 - PubMed: White 2005, PubMed: Ten Dam 2019 - - Germline yes - - - - DNA MAPH, PCR, SSCA - - LGMD Pat8 PubMed: White 2005, PubMed: Ten Dam 2019 - M yes Morocco - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Maternal (confirmed) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Duncan 2006, Kang WMS2005 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Duncan 2006, Kang WMS2005 father French, mother Irish-Italian F - United States white >9y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Maternal (confirmed) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Dos Santos 2001 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Dos Santos 2001 sister of 11693784.1 F - Portugal - - - - - 1 Rosário dos Santos
+/. 6 c.525del r.(=) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SSCA, HD - - LGMD - - - - - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - - - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - - - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - - - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - - - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >8y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - M - Italy - >8y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >19y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 - F - Italy - >19y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Unknown - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Dos Santos 2001 - - Germline - - - - - DNA SSCA - - ? - PubMed: Dos Santos 2001 mother of 11693784.1/2 F - Portugal - - - - - 1 Rosário dos Santos
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD2 - PubMed: Trabelsi 2008 Pat44 in Trabelsi - ? (France) - - - - - 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - yes (France) - - - - - 2 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - ? (France) - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Trabelsi 2008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Trabelsi 2008 - - no (France) - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 brother of 10942431.SD; 4 unaffected sisters M - Palestine - >25y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 brother of 10942431.SD; 4 unaffected sisters M - Palestine - >25y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 sister of 10942431.RD; 4 unaffected sisters F - Palestine - >32y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Crosbie 2000 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Crosbie 2000 sister of 10942431.RD; 4 unaffected sisters F - Palestine - >32y - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic (recessive) g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic (recessive) g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ten Dam 2019 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic (recessive) g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD Pat1 PubMed: Ten Dam 2019 family, 3 affected (F, 2M) M - Netherlands - - - - - 3 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic (recessive) g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ginjaar 2000, PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD Pat4 PubMed: Ginjaar 2000, PubMed: Ten Dam 2019 5-generation family, 5 affecteds (3F, 2M) F - Morocco - - - - - 5 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic (recessive) g.23869573del g.23295434del - - SGCG_000001 - PubMed: Ginjaar 2000, PubMed: Ten Dam 2019 - - Germline yes - - - - DNA SEQ - - LGMD Pat5 PubMed: Ginjaar 2000, PubMed: Ten Dam 2019 - M - Morocco - - - - - 1 Ieke Ginjaar
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #2 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - MD - - - M no Algeria - >12y - - - 1 Imane Dalichaouche
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M no Algeria - >13y - - - 1 Imane Dalichaouche
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M no Algeria - >9y - - - 1 Imane Dalichaouche
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F no Algeria - >23y - - - 1 Imane Dalichaouche
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M yes Algeria - >25y - - - 1 Imane Dalichaouche
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Both (homozygous) - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M yes Algeria - >17y - - - 1 Imane Dalichaouche
+/. 6 c.525del r.(?) p.(Phe175Leufs*20) Parent #1 - pathogenic g.23869573del g.23295434del - - SGCG_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F no Algeria - >6y - - - 1 Imane Dalichaouche
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