Unique variants in gene SMARCB1

Information The variants shown are described using the transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 3 - c.-31C>T r.(=) p.(=) g.24129326C>T - SMARCB1_000003 rs34276473 - - - Despoina Kalfakakou
./. 1 - c.-26T>C r.(=) p.(=) g.24129331T>C - SMARCB1_000016 - - - - Despoina Kalfakakou
./. 1 - c.94-23G>T r.(=) p.(=) g.24133920G>T - SMARCB1_000026 - - - - Despoina Kalfakakou
./. 1 - c.232+13G>A r.(=) p.(=) g.24134094G>A - SMARCB1_000024 - - - - Despoina Kalfakakou
./. 1 - c.232+45C>G r.(=) p.(=) g.24134126C>G - SMARCB1_000022 - - - - Despoina Kalfakakou
./. 1 - c.233-7G>A r.(=) p.(=) g.24135739G>A - SMARCB1_000025 - - - - Despoina Kalfakakou
./. 1 - c.301G>A r.(?) p.(Asp101Asn) g.24135814G>A - SMARCB1_000021 - - - - Despoina Kalfakakou
./. 1 - c.362+7C>T r.(=) p.(=) g.24135882C>T - SMARCB1_000009 rs34746244 - - - Despoina Kalfakakou
./. 1 - c.362+17C>A r.(=) p.(=) g.24135892C>A - SMARCB1_000023 - - - - Despoina Kalfakakou
./. 3 - c.438A>G r.(=) p.(=) g.24143206A>G - SMARCB1_000004 rs35105793 - - - Despoina Kalfakakou
./. 1 - c.493C>A r.(?) p.(Pro165Thr) g.24143261C>A - SMARCB1_000019 - - - - Despoina Kalfakakou
./. 2 - c.500+24C>G r.(=) p.(=) g.24143292C>G - SMARCB1_000017 - - - - Despoina Kalfakakou
./. 2 - c.500+30G>A r.(=) p.(=) g.24143298G>A - SMARCB1_000011 - - - - Despoina Kalfakakou
./. 8 - c.500+40C>T r.(=) p.(=) g.24143308C>T - SMARCB1_000005 rs62642539 - - - Despoina Kalfakakou
./. 1 - c.501-38G>A r.(=) p.(=) g.24145444G>A - SMARCB1_000018 - - - - Despoina Kalfakakou
./. 18 - c.501-23T>G r.(=) p.(=) g.24145459T>G - SMARCB1_000006 - - - - Despoina Kalfakakou
./. 1 - c.582G>A r.(=) p.(=) g.24145563G>A - SMARCB1_000008 - - - - Despoina Kalfakakou
./. 10 - c.628+13C>T r.(=) p.(=) g.24145622C>T - SMARCB1_000001 - - - - Despoina Kalfakakou
./. 2 - c.629-47C>T r.(=) p.(=) g.24158910C>T - SMARCB1_000012 - - - - Despoina Kalfakakou
./. 1 - c.796-49T>C r.(=) p.(=) g.24167363T>C - SMARCB1_000015 - - - - Despoina Kalfakakou
./. 2 - c.852A>G r.(=) p.(=) g.24167468A>G - SMARCB1_000013 - - - - Despoina Kalfakakou
./. 2 - c.1032C>T r.(=) p.(=) g.24175804C>T - SMARCB1_000014 - - - - Despoina Kalfakakou
./. 13 - c.1118+52A>G r.(=) p.(=) g.24175942A>G - SMARCB1_000007 - - - - Despoina Kalfakakou
./. 1 - c.1119-30G>A r.(=) p.(=) g.24176298G>A - SMARCB1_000010 - - - - Despoina Kalfakakou
./. 1 - c.1131T>C r.(=) p.(=) g.24176340T>C - SMARCB1_000027 - - - - Despoina Kalfakakou
./. 1 - c.*18G>A r.(=) p.(=) g.24176385G>A - SMARCB1_000020 - - - - Despoina Kalfakakou
./. 3 - c.*27G>A r.(=) p.(=) g.24176394G>A - SMARCB1_000002 - - - - Despoina Kalfakakou
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