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.

11 entries on 1 page. Showing entries 1 - 11.
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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     
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.(579_702del?) p.(Arg193_Met234delfs*45?) Parent #1 - pathogenic g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - Acta Myologica Dec.1998, p.37, Nigro; Acta Myologica Apr.1999 3:51, PubMed: White 2005 - - Germline - - - - - DNA PCR, MAPH, SEQ - - LGMD - Acta Myologica Dec.1998, p.37, Nigro; Acta Myologica Apr.1999 3:51, PubMed: White 2005 break point derived from White (2005) - - Hungary - - - - - 1 Johan den Dunnen
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.(579_702del?) p.(Arg193_Met234delfs*45?) Parent #2 - pathogenic g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - Acta Myologica Dec.1998, p.37, Nigro; Acta Myologica Apr.1999 3:51, PubMed: White 2005 - - Germline - - - - - DNA PCR, MAPH, SEQ - - LGMD - Acta Myologica Dec.1998, p.37, Nigro; Acta Myologica Apr.1999 3:51, PubMed: White 2005 break point derived from White (2005) - - Hungary - - - - - 1 Johan den Dunnen
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.(579_702del?) p.(Arg193_Met234delfs*45?) Parent #1 - pathogenic g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - Politano 1998, Acta Myologica 2:33,, PubMed: White 2005 - - Germline - - - - - DNA PCR, MAPH, SEQ - - LGMD - Politano 1998, Acta Myologica 2:33,, PubMed: White 2005 both parents carrier - - Italy - - - - - 3 Johan den Dunnen
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.(579_702del?) p.(Arg193_Met234delfs*45?) Parent #2 - pathogenic g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - Politano 1998, Acta Myologica 2:33,, PubMed: White 2005 - - Germline - - - - - DNA PCR, MAPH, SEQ - - LGMD - Politano 1998, Acta Myologica 2:33,, PubMed: White 2005 both parents carrier - - Italy - - - - - 3 Johan den Dunnen
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.(579_702del?) p.(Arg193_Met234delfs*45?) Parent #1 - pathogenic g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - Politano 1998, Acta Myologica 2:33,, PubMed: White 2005 - - Germline - - - - - DNA PCR, MAPH, SEQ - - LGMD - Politano 1998, Acta Myologica 2:33,, PubMed: White 2005 - - - Italy - - - - - 1 Johan den Dunnen
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.(579_702del?) p.(Arg193_Met234delfs*45?) Parent #2 - pathogenic g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - Politano 1998, Acta Myologica 2:33,, PubMed: White 2005 - - Germline - - - - - DNA PCR, MAPH, SEQ - - LGMD - Politano 1998, Acta Myologica 2:33,, PubMed: White 2005 - - - Italy - - - - - 1 Johan den Dunnen
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.(579_702del) p.(Arg193_Met234delfs*45) Paternal (confirmed) - pathogenic (recessive) g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 6.6 kb deletion, breakpoint sequenced 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
+/. 6i c.579-4730_702+1721delinsACACTA r.(579_702del) p.(Arg193_Met234delfs*45) Paternal (inferred) - pathogenic g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - PubMed: Pena 2010 - - Germline - - - - - DNA PCR, SEQ - - LGMD - PubMed: Pena 2010 - F no Romania - >10y - - - 1 Johan den Dunnen
+/. 6i c.579-4730_702+1721delinsACACTA r.(579_702del) p.(Arg193_Met234delfs*45) Maternal (inferred) - pathogenic g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - PubMed: Pena 2010 - - Germline - - - - - DNA PCR, SEQ - - LGMD - PubMed: Pena 2010 - F no Romania - >10y - - - 1 Johan den Dunnen
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.? p.? Maternal (confirmed) - pathogenic (recessive) g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA 579-?_702+?del - SGCG_000026 - PubMed: Giugliano 2018 - - Germline - - - - - DNA arrayCGH - - LGMD Patient XI PubMed: Giugliano 2018 - M - Italy - - - - - 1 Teresa Giugliano
+/. 6i_7i c.579-4730_702+1721delinsACACTA r.(579_702del) p.(Arg193_Met234delfs*45) Paternal (confirmed) - pathogenic (recessive) g.23890046_23896620delinsACACTA g.23315907_23322481delinsACACTA - - SGCG_000026 - PubMed: Ten Dam 2019 - - Germline yes - - - - DNA MLPA, SEQ - - LGMD Pat16 PubMed: Ten Dam 2019 - F - Morocco - - - - - 1 Ieke Ginjaar
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