Full data view for gene EXT1

Information The variants shown are described using the NM_000127.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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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.-40C>G r.(=) p.(=) Parent #2 g.119123325G>C - EXT1_000001 - - - - DNA SEQ-NG-I 1 - - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.-40C>G r.(=) p.(=) Parent #2 g.119123325G>C - EXT1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Korakovouni, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.55C>T r.(?) p.(Leu19Phe) Parent #2 g.119123231G>A - EXT1_000026 - - - - DNA SEQ-NG-I 1 PrCa - M Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.122G>C r.(?) p.(Ser41Thr) Parent #2 g.119123164C>G - EXT1_000019 - - - - DNA SEQ-NG-I 1 BrCa, RCC - F Asia Minor Agrinio Greek no - 1 Despoina Kalfakakou
./. - c.210A>G r.(=) p.(=) Parent #2 g.119123076T>C - EXT1_000018 - - - - DNA SEQ-NG-I 1 Healthy/Control - F - - Greek no - 1 Despoina Kalfakakou
./. - c.214G>A r.(?) p.(Glu72Lys) Parent #2 g.119123072C>T - EXT1_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada - Greek no - 1 Despoina Kalfakakou
./. - c.214G>A r.(?) p.(Glu72Lys) Parent #2 g.119123072C>T - EXT1_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.315T>C r.(=) p.(=) Parent #2 g.119122971A>G - EXT1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.517A>G r.(?) p.(Asn173Asp) Parent #2 g.119122769T>C - EXT1_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Ithomi, Karditsa Emmanouil Pappas, Serres Greek no - 1 Despoina Kalfakakou
./. - c.528C>G r.(=) p.(=) Parent #2 g.119122758G>C - EXT1_000007 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Kozani Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.844G>A r.(?) p.(Ala282Thr) Parent #2 g.119122442C>T - EXT1_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Andravida, Elis Leros Greek no - 1 Despoina Kalfakakou
./. - c.962+22T>C r.(=) p.(=) Parent #2 g.119122302A>G - EXT1_000016 - - - - DNA SEQ-NG-I 1 CRC - F Ireland Huddersfield, UK Irish no - 1 Despoina Kalfakakou
./. - c.962+22T>C r.(=) p.(=) Parent #2 g.119122302A>G - EXT1_000016 - - - - DNA SEQ-NG-I 1 Pheo - M Astros, Kynouria Amfilochia Greek no - 1 Despoina Kalfakakou
./. - c.962+22T>C r.(=) p.(=) Parent #2 g.119122302A>G - EXT1_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Mystras Mani Greek no - 1 Despoina Kalfakakou
./. - c.962+37del r.(=) p.(=) Parent #2 g.119122287del - EXT1_000027 - - - - DNA SEQ-NG-I 1 PrCa - M Achaea - Greek no - 1 Despoina Kalfakakou
./. - c.1164+51C>T r.(=) p.(=) Parent #2 g.118847632G>A - EXT1_000015 - - - - DNA SEQ-NG-I 1 ColPol - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.1164+51C>T r.(=) p.(=) Parent #2 g.118847632G>A - EXT1_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1165-49T>C r.(=) p.(=) Parent #2 g.118842637A>G - EXT1_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Orestiada Greek no - 1 Despoina Kalfakakou
./. - c.1165-35del r.(=) p.(=) Parent #2 g.118842623del - EXT1_000028 - - - - DNA SEQ-NG-I 1 OVCA - F Aegina - Greek no - 1 Despoina Kalfakakou
./. - c.1284+25G>A r.(=) p.(=) Parent #2 g.118842444C>T - EXT1_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.1284+25G>A r.(=) p.(=) Parent #2 g.118842444C>T - EXT1_000017 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.1284+25G>A r.(=) p.(=) Parent #2 g.118842444C>T - EXT1_000017 - - - - DNA SEQ-NG-I 1 - - F Mytilene Paros Greek no - 1 Despoina Kalfakakou
./. - c.1284+25G>A r.(=) p.(=) Parent #2 g.118842444C>T - EXT1_000017 - - - - DNA SEQ-NG-I 1 OVCA - F Kranidi, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.1360G>A r.(?) p.(Val454Ile) Parent #2 g.118834761C>T - EXT1_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Gialtra, Aidipsos East Mani Greek no - 1 Despoina Kalfakakou
./. - c.1417+16C>T r.(=) p.(=) Parent #2 g.118834688G>A - EXT1_000002 - - - - DNA SEQ-NG-I 1 BrCa, CWS1 - F Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.1417+39del r.(=) p.(=) Parent #2 g.118834665del - EXT1_000030 - - - - DNA SEQ-NG-I 1 OVCA - F Ios - Greek no - 1 Despoina Kalfakakou
./. - c.1418-45T>C r.(=) p.(=) Parent #2 g.118832078A>G - EXT1_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.1418-34G>A r.(=) p.(=) Parent #2 g.118832067C>T - EXT1_000010 - - - - DNA SEQ-NG-I 1 CRC, GaPol - F Chania, Crete Euboea Greek no - 1 Despoina Kalfakakou
./. - c.1418-34G>A r.(=) p.(=) Parent #2 g.118832067C>T - EXT1_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) Parent #2 g.118832021G>C - EXT1_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) Parent #2 g.118832021G>C - EXT1_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese Izmir Greek no - 1 Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) Parent #2 g.118832021G>C - EXT1_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) Parent #2 g.118832021G>C - EXT1_000005 - - - - DNA SEQ-NG-I 1 PNCA2 - M Kollines, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.1430C>G r.(?) p.(Pro477Arg) Parent #2 g.118832021G>C - EXT1_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Athens United Kingdom Greek no - 1 Despoina Kalfakakou
./. - c.1486C>T r.(?) p.(Pro496Ser) Parent #2 g.118831965G>A - EXT1_000024 - - - - DNA SEQ-NG-I 1 - - F Alexandria, Egypt Serres Greek no - 1 Despoina Kalfakakou
./. - c.1536+7G>A r.(=) p.(=) Parent #2 g.118831908C>T - EXT1_000021 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Istiaia, Evia Tsapournia, Evia Greek no - 4 Despoina Kalfakakou
./. - c.1659C>T r.(=) p.(=) Parent #2 g.118825174G>A - EXT1_000025 - - - - DNA SEQ-NG-I 1 - - F Kalavryta Rethimno, Crete Greek no - 1 Despoina Kalfakakou
./. - c.1659C>T r.(=) p.(=) Parent #2 g.118825174G>A - EXT1_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.1677C>T r.(=) p.(=) Parent #2 g.118825156G>A - EXT1_000029 - - - - DNA SEQ-NG-I 1 OVCA - F Chelidoni, Archaia Olympia - Greek no - 1 Despoina Kalfakakou
./. - c.1722+9C>T r.(=) p.(=) Parent #2 g.118825102G>A - EXT1_000014 - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Corfu Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.1722+9C>T r.(=) p.(=) Parent #2 g.118825102G>A - EXT1_000014 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.1722+9C>T r.(=) p.(=) Parent #2 g.118825102G>A - EXT1_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Elbasan, Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.1722+9C>T r.(=) p.(=) Parent #2 g.118825102G>A - EXT1_000014 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Constantinople Athens Greek no - 1 Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Anthones, Elis Athens Greek no - 4 Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Krestena, Elis Derveni, Corinth Greek no - 1 Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Raveni, Thesprotia Anthrakitis, Zagorochoria, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 - - - - DNA SEQ-NG-I 1 ENC, ENDO, EnPol, OVCA - F Preveza Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 - - - - DNA SEQ-NG-I 1 RCC - M Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Nafplio Greek no - 1 Despoina Kalfakakou
./. - c.1782G>A r.(=) p.(=) Parent #2 g.118819557C>T - EXT1_000004 rs61753261 - - - DNA SEQ-NG-I 1 BrCa - F Lamia Paros Greek no - 1 Despoina Kalfakakou
./. - c.2178C>T r.(=) p.(=) Parent #2 g.118812014G>A - EXT1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Larisa Greek no - 1 Despoina Kalfakakou
./. - c.*48A>T r.(=) p.(=) Parent #2 g.118811903T>A - EXT1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Agios Petros, Cynuria Greek no - 1 Despoina Kalfakakou
./. - c.*48A>T r.(=) p.(=) Parent #2 g.118811903T>A - EXT1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Samos Troizinia, Poros Greek no - 1 Despoina Kalfakakou
./. - c.*48A>T r.(=) p.(=) Parent #2 g.118811903T>A - EXT1_000003 - - - - DNA SEQ-NG-I 1 CAL, GIST - M Parga, Preveza - Greek no - 5 Despoina Kalfakakou
Legend