Full data view for gene SDHD

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

42 entries on 1 page. Showing entries 1 - 42.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 OVCA - F Arta & Chios Agios Mattheos Corfu Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Kos Lygourio, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 CRC - M Manesi, Messinia - Greek no - 5 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 Polyposis - M Hydra Mykonos Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Athens Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 Polyposis - M Tylissos, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Thebes - Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 CRC, TonsilCa - M Dafni, Kalavryta - Greek no - 3 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 Polyposis - M Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 CRC - M Asia Minor Kozani Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi Corinth Greek no - 2 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Dominican Republic Armenia Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Naxos Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Pandrosos, Rodhope Sappes, Rodhope Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 OVCA - F Larisa Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Rethymno - Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Both (homozygous) g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Kavala Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Kos Kalymnos Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 ColPol, HMGM, MNGM, NF, TRC - F Arnissa, Edessa Serres Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 RCC, TRC - F Karditsa Latisa Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 ENC, EnPol - F Cassandra, Halkidiki Marathousa, Halkidiki Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 CMM3 - F Serres Lamia Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 PNCA2 - F Molos, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 PNCA2 - M Kritsa, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa, TRC - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 BrCa - F Austria Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi - Greek no - 1 Despoina Kalfakakou
./. - c.169+861C>T r.(=) p.(=) Parent #2 g.111959558C>T - SDHD_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Phocis Greek no - 1 Despoina Kalfakakou
./. - c.169+927G>A r.(=) p.(=) Parent #2 g.111959624G>A - SDHD_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.169+940C>G r.(=) p.(=) Parent #2 g.111959637C>G - SDHD_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Ramia, Arta - Greek no - 1 Despoina Kalfakakou
./. - c.169+1089A>T r.(=) p.(=) Parent #2 g.111959786A>T - SDHD_000005 - - - - DNA SEQ-NG-I 1 CRC, Polyposis - M Crete Athens Greek no - 1 Despoina Kalfakakou
./. - c.169+1089A>T r.(=) p.(=) Parent #2 g.111959786A>T - SDHD_000005 - - - - DNA SEQ-NG-I 1 RCC, TRC - F Karditsa Latisa Greek no - 1 Despoina Kalfakakou
./. - c.169+1089A>T r.(=) p.(=) Parent #2 g.111959786A>T - SDHD_000005 - - - - DNA SEQ-NG-I 1 - - F Asia Minor Patras Greek no - 1 Despoina Kalfakakou
./. - c.169+1089A>T r.(=) p.(=) Parent #2 g.111959786A>T - SDHD_000005 - - - - DNA SEQ-NG-I 1 GLM3 - M Nees Karye, Larisa Athens Greek no - 1 Despoina Kalfakakou
./. - c.170-29T>C r.(=) p.(=) Parent #2 g.111965500T>C - SDHD_000007 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.190C>T r.(=) p.(=) Parent #2 g.111965549C>T - SDHD_000008 - - - - DNA SEQ-NG-I 1 ColPol - M Chania, Crete Kastellorizo Greek no - 1 Despoina Kalfakakou
./. - c.196A>G r.(?) p.(Met66Val) Parent #2 g.111965555A>G - SDHD_000002 - - - - DNA SEQ-NG-I 1 BrCa, PGL4 - F Sparti - Greek no - 1 Despoina Kalfakakou
./. - c.232C>G r.(?) p.(Gln78Glu) Parent #2 g.111965591C>G - SDHD_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.241T>C r.(?) p.(Trp81Arg) Parent #2 g.111965600T>C - SDHD_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Katerini Lamia Greek no - 1 Despoina Kalfakakou
./. - c.242G>A r.(?) p.(Trp81*) Parent #2 g.111965601G>A - SDHD_000010 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.*36G>A r.(=) p.(=) Parent #2 g.111965653G>A - SDHD_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
Legend