Full data view for gene SDHD

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

49 entries on 1 page. Showing entries 1 - 49.
Legend  

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.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi - Greek no - 1 Despoina Kalfakakou
?/? - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.149A>G r.(?) p.(His50Arg) Parent #2 g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Limnos Serres Greek no - 1 Despoina Kalfakakou
?/? - c.169+861C>T r.(=) p.(=) Parent #2 g.111959558C>T - SDHD_000009 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ramia, Arta - Greek no - 1 Despoina Kalfakakou
?/? - c.169+1036C>T r.(=) p.(=) Parent #2 g.111959733C>T - SDHD_000013 rs61734352 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
?/? - c.169+1089A>T r.(=) p.(=) Parent #2 g.111959786A>T - SDHD_000005 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 GLM3 - M Nees Karye, Larisa Athens Greek no - 1 Despoina Kalfakakou
?/? - c.169+1089A>T r.(=) p.(=) Parent #2 g.111959786A>T - SDHD_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 2 Despoina Kalfakakou
?/? - c.169+1089A>T r.(=) p.(=) Parent #2 g.111959786A>T - SDHD_000005 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Agios Georgios Nileias, Pelion Katochori, Pelion Greek no - 1 Despoina Kalfakakou
?/? - c.169+1089A>T r.(=) p.(=) Parent #2 g.111959786A>T - SDHD_000005 - - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.170-29T>C r.(=) p.(=) Parent #2 g.111965500T>C - SDHD_000007 - - Germline - - - - 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  rs199869408 - Germline - - - - 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 Andrews et al (2018)  SDHD_000002 rs104894304 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.*36G>A r.(=) p.(=) Parent #2 g.111965653G>A - SDHD_000001 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
Legend