Full data view for gene SDHAF2

Information The variants shown are described using the NM_017841.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-28C>A r.(=) p.(=) Parent #2 g.61197591C>A - SDHAF2_000009 - - - - - - - DNA SEQ-NG-I 1 HMGM, Pheo, PNCA2, RCC - F Epiniana, Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.-23G>A r.spl? p.? Parent #2 g.61197596G>A - SDHAF2_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese Karystos Greek no - 1 Despoina Kalfakakou
./. - c.-23G>A r.spl? p.? Parent #2 g.61197596G>A - SDHAF2_000006 - - - - - - - DNA SEQ-NG-I 1 PANCA - M Kefalonia - - - - 1 Despoina Kalfakakou
./. - c.36+17T>C r.(=) p.(=) Parent #2 g.61197671T>C - SDHAF2_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - M Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.36+17T>C r.(=) p.(=) Parent #2 g.61197671T>C - SDHAF2_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Dara, Arcadia Ithaca Greek no - 1 Despoina Kalfakakou
./. - c.36+26C>T r.(=) p.(=) Parent #2 g.61197680C>T - SDHAF2_000012 - - - - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.37-5T>C r.spl? p.? Parent #2 g.61205092T>C - SDHAF2_000013 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Andros Nemea Greek no - 1 Despoina Kalfakakou
./. - c.97C>T r.(?) p.(Arg33Cys) Parent #2 g.61205157C>T - SDHAF2_000004 - - - - - - - DNA SEQ-NG-I 1 CRC - M Kria Vrisi, Giannitsa Armenoi, Messenia Greek no - 2 Despoina Kalfakakou
./. - c.97C>T r.(?) p.(Arg33Cys) Parent #2 g.61205157C>T - SDHAF2_000004 - - - - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
./. - c.97C>T r.(?) p.(Arg33Cys) Parent #2 g.61205157C>T - SDHAF2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA, TRC - F Stavros, Lesvos - Greek no - 1 Despoina Kalfakakou
./. - c.139A>G r.(?) p.(Met47Val) Parent #2 g.61205199A>G - SDHAF2_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Kranoula, Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.145_147del r.(?) p.(Glu49del) Parent #2 g.61205205_61205207del - SDHAF2_000005 - - - - - - - DNA SEQ-NG-I 1 CRC - M Derveni, Corinthia - Greek no - 2 Despoina Kalfakakou
./. - c.370+43T>C r.(=) p.(=) Parent #2 g.61205628T>C - SDHAF2_000010 - - - - - - - DNA SEQ-NG-I 1 PrCa - M Patras - Greek no - 1 Despoina Kalfakakou
./. - c.371-46T>C r.(=) p.(=) Parent #2 g.61213367T>C - SDHAF2_000008 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Serifos Greek no - 1 Despoina Kalfakakou
./. - c.371-21C>G r.(=) p.(=) Parent #2 g.61213392C>G - SDHAF2_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Tinos - Greek no - 1 Despoina Kalfakakou
./. - c.371-21C>G r.(=) p.(=) Parent #2 g.61213392C>G - SDHAF2_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.371-7C>T r.(=) p.(=) Parent #2 g.61213406C>T - SDHAF2_000011 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Corfu Greek no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Cyclades Greek no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 ColPol - F Messenia - Greek no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 Polyposis, TRC - F Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - Romanian no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Arachnaio, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 PrCa - M - - Greek no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa, MXM - F Edessa Edessa Greek no - 3 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Nea Figaleia, Elis Taxiarchis, Olympia Greek no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Kyparissia Greek no - 1 Despoina Kalfakakou
./. - c.*12C>T r.(=) p.(=) Parent #2 g.61213555C>T - SDHAF2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
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