Full data view for gene SDHC

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

94 entries on 1 page. Showing entries 1 - 94.
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.-14G>C r.(=) p.(=) Parent #2 g.161284182G>C - SDHC_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth - Greek no - 2 Despoina Kalfakakou
./. - c.-14G>C r.(=) p.(=) Parent #2 g.161284182G>C - SDHC_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth - Greek no - 2 Despoina Kalfakakou
./. - c.20+6T>G r.(=) p.(=) Parent #2 g.161284221T>G - SDHC_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.61C>G r.(?) p.(Gln21Glu) Parent #2 g.161293444C>G - SDHC_000009 - - - - DNA SEQ-NG-I 1 BrCa - M Graika, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.61C>G r.(?) p.(Gln21Glu) Parent #2 g.161293444C>G - SDHC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.77+27T>A r.(=) p.(=) Parent #2 g.161293487T>A - SDHC_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Kilkis - Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Both (homozygous) g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Kilkis - Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Aronas, Pieria Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Tithorea, Livadia Edessa Greek no - 3 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 BrCa - F - Chania Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini - Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Milea, Western Mani - Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 BrainCa, ColPol - M Naxos - German-Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 - - F Mytilene Paros Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 CAL, NF - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Livadeia Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Philippines - Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Lechaina, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.77+28A>T r.(=) p.(=) Parent #2 g.161293488A>T - SDHC_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Domokos - Greek no - 1 Despoina Kalfakakou
./. - c.77+32del r.(=) p.(=) Parent #2 g.161293492del - SDHC_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.77+32del r.(=) p.(=) Parent #2 g.161293492del - SDHC_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Salcea, Suceava, Romania - Romanian no - 1 Despoina Kalfakakou
./. - c.77+32del r.(=) p.(=) Parent #2 g.161293492del - SDHC_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Karpochori, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.77+32del r.(=) p.(=) Parent #2 g.161293492del - SDHC_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Gimno, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.77+46G>C r.(=) p.(=) Parent #2 g.161293506G>C - SDHC_000003 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.77+50G>C r.(=) p.(=) Parent #2 g.161293510G>C - SDHC_000004 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.78-19C>T r.(=) p.(=) Parent #2 g.161298167C>T - SDHC_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.81T>C r.(=) p.(=) Parent #2 g.161298189T>C - SDHC_000025 - - - - DNA SEQ-NG-I 1 GC - F Zacharo, Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.81T>C r.(=) p.(=) Parent #2 g.161298189T>C - SDHC_000025 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.114G>C r.(?) p.(Met38Ile) Parent #2 g.161298222G>C - SDHC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Kos Kalymnos Greek no - 1 Despoina Kalfakakou
./. - c.180-34C>T r.(=) p.(=) Parent #2 g.161310350C>T - SDHC_000005 - - - - DNA SEQ-NG-I 1 CRC, Polyposis - M Crete Athens Greek no - 1 Despoina Kalfakakou
./. - c.180-34C>T r.(=) p.(=) Parent #2 g.161310350C>T - SDHC_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Karystos Greek no - 1 Despoina Kalfakakou
./. - c.198G>A r.(=) p.(=) Parent #2 g.161310402G>A - SDHC_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.241+23A>G r.(=) p.(=) Parent #2 g.161310468A>G - SDHC_000023 - - - - DNA SEQ-NG-I 1 NDL - F Megalochori, Lesvos Africa-UK-Sweden Greek no - 1 Despoina Kalfakakou
./. - c.241+26C>T r.(=) p.(=) Parent #2 g.161310471C>T - SDHC_000021 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.242-5644C>T r.(=) p.(=) Parent #2 g.161326475C>T - SDHC_000018 - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.242-5644C>T r.(=) p.(=) Parent #2 g.161326475C>T - SDHC_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.242-5644C>T r.(=) p.(=) Parent #2 g.161326475C>T - SDHC_000018 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Neochori, Laconia Achladokampos, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.242-5644C>T r.(=) p.(=) Parent #2 g.161326475C>T - SDHC_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.242-5631C>A r.(=) p.(=) Parent #2 g.161326488C>A - SDHC_000019 - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.242-5631C>A r.(=) p.(=) Parent #2 g.161326488C>A - SDHC_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.242-5631C>A r.(=) p.(=) Parent #2 g.161326488C>A - SDHC_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Diavolitsi, Messinia Heraklion Greek no - 3 Despoina Kalfakakou
./. - c.242-5631C>A r.(=) p.(=) Parent #2 g.161326488C>A - SDHC_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Megara - Greek no - 1 Despoina Kalfakakou
./. - c.242-5631C>A r.(=) p.(=) Parent #2 g.161326488C>A - SDHC_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.242-5631C>A r.(=) p.(=) Parent #2 g.161326488C>A - SDHC_000019 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Arcadia Athens Greek no - 1 Despoina Kalfakakou
./. - c.242-5631C>A r.(=) p.(=) Parent #2 g.161326488C>A - SDHC_000019 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Neochori, Laconia Achladokampos, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.242-5631C>A r.(=) p.(=) Parent #2 g.161326488C>A - SDHC_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.242-5621A>G r.(=) p.(=) Parent #2 g.161326498A>G - SDHC_000012 - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.242-5621A>G r.(=) p.(=) Parent #2 g.161326498A>G - SDHC_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.242-5621A>G r.(=) p.(=) Parent #2 g.161326498A>G - SDHC_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Diavolitsi, Messinia Heraklion Greek no - 3 Despoina Kalfakakou
./. - c.242-5621A>G r.(=) p.(=) Parent #2 g.161326498A>G - SDHC_000012 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Neochori, Laconia Achladokampos, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.242-5621A>G r.(=) p.(=) Parent #2 g.161326498A>G - SDHC_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.242-5599T>A r.(=) p.(=) Parent #2 g.161326520T>A - SDHC_000013 - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.242-5599T>A r.(=) p.(=) Parent #2 g.161326520T>A - SDHC_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.242-5599T>A r.(=) p.(=) Parent #2 g.161326520T>A - SDHC_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Bulgaria Romania Romanian no - 1 Despoina Kalfakakou
./. - c.242-5599T>A r.(=) p.(=) Parent #2 g.161326520T>A - SDHC_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Diavolitsi, Messinia Heraklion Greek no - 3 Despoina Kalfakakou
./. - c.242-5599T>A r.(=) p.(=) Parent #2 g.161326520T>A - SDHC_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.242-5599T>A r.(=) p.(=) Parent #2 g.161326520T>A - SDHC_000013 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Arcadia Athens Greek no - 1 Despoina Kalfakakou
./. - c.242-5599T>A r.(=) p.(=) Parent #2 g.161326520T>A - SDHC_000013 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Neochori, Laconia Achladokampos, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.242-5599T>A r.(=) p.(=) Parent #2 g.161326520T>A - SDHC_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 BrCa - F Bulgaria Romania Romanian no - 1 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 BrCa - F Diavolitsi, Messinia Heraklion Greek no - 3 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 BrCa - F Megara - Greek no - 1 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 ENC, EnPol - F Arcadia Athens Greek no - 1 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 ENC, EnPol - F Neochori, Laconia Achladokampos, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.242-5588T>C r.(=) p.(=) Parent #2 g.161326531T>C - SDHC_000014 rs11547241 - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Bulgaria Romania Romanian no - 1 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Diavolitsi, Messinia Heraklion Greek no - 3 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Megara - Greek no - 1 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Arcadia Athens Greek no - 1 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Neochori, Laconia Achladokampos, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.242-5587G>C r.(=) p.(=) Parent #2 g.161326532G>C - SDHC_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.242-5555C>T r.(=) p.(=) Parent #2 g.161326564C>T - SDHC_000016 - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.242-5555C>T r.(=) p.(=) Parent #2 g.161326564C>T - SDHC_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Bulgaria Romania Romanian no - 1 Despoina Kalfakakou
./. - c.242-5555C>T r.(=) p.(=) Parent #2 g.161326564C>T - SDHC_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.242-5555C>T r.(=) p.(=) Parent #2 g.161326564C>T - SDHC_000016 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Arcadia Athens Greek no - 1 Despoina Kalfakakou
./. - c.242-5555C>T r.(=) p.(=) Parent #2 g.161326564C>T - SDHC_000016 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
./. - c.242-5555C>T r.(=) p.(=) Parent #2 g.161326564C>T - SDHC_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.242-5553A>T r.(=) p.(=) Parent #2 g.161326566A>T - SDHC_000017 - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.242-5553A>T r.(=) p.(=) Parent #2 g.161326566A>T - SDHC_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.242-5476G>A r.(=) p.(=) Parent #2 g.161326643G>A - SDHC_000024 - - - - DNA SEQ-NG-I 1 TRC - F Agia Triada, Argolis Neo Roino, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.242-5466C>T r.(=) p.(=) Parent #2 g.161326653C>T - SDHC_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.242-5466C>T r.(=) p.(=) Parent #2 g.161326653C>T - SDHC_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Anogia, Rethimno Chrani, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.242-5466C>T r.(=) p.(=) Parent #2 g.161326653C>T - SDHC_000006 - - - - DNA SEQ-NG-I 1 DuoCa - M Prodromos, Cyprus Nicosia Greek no - 1 Despoina Kalfakakou
./. - c.242-5453A>G r.(=) p.(=) Parent #2 g.161326666A>G - SDHC_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkida - Greek no - 1 Despoina Kalfakakou
./. - c.321C>G r.(=) p.(=) Parent #2 g.161332198C>G - SDHC_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.368A>G r.(?) p.(His123Arg) Parent #2 g.161332245A>G - SDHC_000007 - - - - DNA SEQ-NG-I 1 ColPol, CRC, LuCa, NDL, Polyposis - M - - Greek no - 1 Despoina Kalfakakou
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