Full data view for gene SDCCAG8

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006642.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

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AscendingDNA change (cDNA)     

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+?/. - c.740+356C>T r.spl p.(?) Parent #1 - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8, variant 1: c.740+356C>T/p.?, variant 2: c.740+356C>T/p.? - SDCCAG8_000062 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1194 PubMed: Weisschuh 2020 Filing key number: 890, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.740+356C>T r.spl p.(?) Unknown - VUS g.243468435C>T g.243305133C>T SDCCAG8 nucleotide 1, protein 1:c.740+356C>T, p.? nucleotide 2, protein 2:c.1324dupC, p.Gln442Profs*22 - SDCCAG8_000062 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline yes - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 86 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+?/. 7i c.740+356C>T r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]] p.Asp249LysfsTer20 Both (homozygous) - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon - SDCCAG8_000062 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FI.2-21 PubMed: Otto 2010 family FI.2, individual 21 - yes - Gypsy - - - - 1 LOVD
+?/. 7i c.740+356C>T r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]] p.Asp249LysfsTer20 Both (homozygous) - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon - SDCCAG8_000062 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FI.2-22 PubMed: Otto 2010 family FI.2, individual 22 - yes - Gypsy - - - - 1 LOVD
+?/. 7i c.740+356C>T r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]] p.Asp249LysfsTer20 Both (homozygous) - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon - SDCCAG8_000062 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FI.2-23 PubMed: Otto 2010 family FI.2, individual 23 - yes - Gypsy - - - - 1 LOVD
+?/. 7i c.740+356C>T r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]] p.Asp249LysfsTer20 Both (homozygous) - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon - SDCCAG8_000062 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FI.2-24 PubMed: Otto 2010 family FI.2, individual 24 - yes - Gypsy - - - - 1 LOVD
+/. - c.740+356C>T r.(=) p.(=) Unknown - pathogenic g.243468435C>T - SDCCAG8(NM_006642.5):c.740+356C>T - SDCCAG8_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.740+356C>T r.spl p.? Parent #1 - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, p.? - SDCCAG8_000062 heterozygous PubMed: Tay 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease ? PubMed: Tay 2020 - F - New Zealand Ashkenazi and Sephardic Jewish - - - - 1 LOVD
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