Full data view for gene NF1

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

1655 entries on 17 pages. Showing entries 1 - 100.
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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.-28T>A r.(=) p.(=) Parent #2 g.29422300T>A - NF1_000299 - - - - DNA SEQ-NG-I 1 OVCA - F England - Greek no - 3 Despoina Kalfakakou
./. - c.-27C>T r.(=) p.(=) Parent #2 g.29422301C>T - NF1_000300 - - - - DNA SEQ-NG-I 1 OVCA - F England - Greek no - 3 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Tilos Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Mandra - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Kefalonia Pisidia, Asia Minor Greek no - 3 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Constantinople Mytikas, Etolia-Akarnania Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Armenia Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Kavala Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Both (homozygous) g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Milos - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 - - F Nafplion Thiva Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 BrainCa - M Elassona - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Megalopolis, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Austria Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus (Kazakhstan) - Greek no - 1 Despoina Kalfakakou
./. - c.-22G>C r.(=) p.(=) Parent #2 g.29422306G>C - NF1_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.60+15G>A r.(=) p.(=) Parent #2 g.29422402G>A - NF1_000129 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.60+15G>A r.(=) p.(=) Parent #2 g.29422402G>A - NF1_000129 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.60+15G>A r.(=) p.(=) Parent #2 g.29422402G>A - NF1_000129 - - - - DNA SEQ-NG-I 1 OVCA - F Korçë, Albania - Greek no - 1 Despoina Kalfakakou
./. - c.60+49del r.(=) p.(=) Parent #2 g.29422436del - NF1_000162 - - - - DNA SEQ-NG-I 1 CMM3, CRC - F Rethimno, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.60+49del r.(=) p.(=) Parent #2 g.29422436del - NF1_000162 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.61-17T>C r.(=) p.(=) Parent #2 g.29482984T>C - NF1_000276 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.134A>G r.(?) p.(Asn45Ser) Parent #2 g.29483074A>G - NF1_000215 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Kavala Greek no - 1 Despoina Kalfakakou
./. - c.157T>C r.(=) p.(=) Parent #2 g.29483097T>C - NF1_000286 - - - - DNA SEQ-NG-I 1 OVCA - F Andros Limni, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.204G>A r.(?) p.(Met68Ile) Parent #2 g.29483144G>A - NF1_000153 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Liti, Thessaloniki - Greek no - 3 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Athens Lemnos Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 Healthy/Control - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Piraeus - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Aigaleo - Greek no - 3 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Veroia Aiginio, Pieria Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Russia Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 Healthy/Control - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Androusa, Messinia Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 - - F Analipsi, Trichonida, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 - - M - - - no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Komotini - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 OVCA - F Karpathos / Pontus Karpathos / Pontus Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa - F Didyma, Argolis Levidi, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 BrCa, GaPol - F Petrino, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 OVCA - F Evinochori, Missolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 OVCA - F Russia & Asia Minor Drama Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 OVCA - F Patras - Greek no - 1 Despoina Kalfakakou
./. - c.204+51G>C r.(=) p.(=) Parent #2 g.29483195G>C - NF1_000021 rs17885980 - - - DNA SEQ-NG-I 1 CRC - F Koniakos, Phocis - Greek no - 4 Despoina Kalfakakou
./. - c.235T>C r.(=) p.(=) Parent #2 g.29486058T>C - NF1_000289 - - - - DNA SEQ-NG-I 1 BrCa - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.235T>C r.(=) p.(=) Parent #2 g.29486058T>C - NF1_000289 - - - - DNA SEQ-NG-I 1 OVCA - F Pella Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.288+28G>A r.(=) p.(=) Parent #2 g.29486139G>A - NF1_000190 - - - - DNA SEQ-NG-I 1 BrCa - F Aptera, Chania - Greek no - 5 Despoina Kalfakakou
./. - c.288+28G>A r.(=) p.(=) Parent #2 g.29486139G>A - NF1_000190 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.288+28G>A r.(=) p.(=) Parent #2 g.29486139G>A - NF1_000190 - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
./. - c.288+42A>G r.(=) p.(=) Parent #2 g.29486153A>G - NF1_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Milos Greek no - 2 Despoina Kalfakakou
./. - c.289-43G>A r.(=) p.(=) Parent #2 g.29490161G>A - NF1_000212 - - - - DNA SEQ-NG-I 1 OVCA - F Gjirokaster, Albania - Greek no - 1 Despoina Kalfakakou
./. - c.340C>T r.(=) p.(=) Parent #2 g.29490255C>T - NF1_000198 rs7207410 - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.340C>T r.(=) p.(=) Parent #2 g.29490255C>T - NF1_000198 rs7207410 - - - DNA SEQ-NG-I 1 - - F Etolia-Akarnania Lasithi, Crete Greek no - 1 Despoina Kalfakakou
./. - c.381_382del r.(?) p.(Asn128Profs*5) Parent #2 g.29490296_29490297del - NF1_000243 - - - - DNA SEQ-NG-I 1 CAL, GIST - M Parga, Preveza - Greek no - 5 Despoina Kalfakakou
./. - c.381_382del r.(?) p.(Asn128Profs*5) Unknown g.29490296_29490297del - NF1_000243 - Germline ? - DNA SEQ 0 CAL - M Parga, Preveza - Greek no - 4 Despoina Kalfakakou
./. - c.466C>T r.(?) p.(Arg156Cys) Parent #2 g.29490381C>T - NF1_000293 - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.484C>T r.(?) p.(Gln162*) Parent #2 g.29496913C>T - NF1_000260 - - - - DNA SEQ-NG-I 1 BonMal, CAL - M Athens Mani Greek no - 1 Despoina Kalfakakou
./. - c.528T>A r.(?) p.(Asp176Glu) Parent #2 g.29496957T>A - NF1_000304 - - - - DNA SEQ-NG-I 1 OVCA - F Limnos Serres Greek no - 1 Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) Parent #2 g.29497013A>G - NF1_000191 - - - - DNA SEQ-NG-I 1 CRC, Polyposis - M Lamia Kamena Vourla Greek no - 1 Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) Parent #2 g.29497013A>G - NF1_000191 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 2 Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) Parent #2 g.29497013A>G - NF1_000191 - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) Parent #2 g.29497013A>G - NF1_000191 - - - - DNA SEQ-NG-I 1 BrCa, ENC, OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Lys195Arg) Parent #2 g.29497013A>G - NF1_000191 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Vachlia, Arcadia Kardaritsi, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.586+51A>G r.(=) p.(=) Parent #2 g.29497066A>G - NF1_000202 - - - - DNA SEQ-NG-I 1 BrCa - F Nicaea - Greek no - 2 Despoina Kalfakakou
./. - c.587-20A>T r.(=) p.(=) Parent #2 g.29508420A>T - NF1_000192 - - - - DNA SEQ-NG-I 1 BrCa - F Managouli, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.587-20A>T r.(=) p.(=) Parent #2 g.29508420A>T - NF1_000192 - - - - DNA SEQ-NG-I 1 BrCa - F Lianikladi, Phthiotis Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.587-11G>T r.(=) p.(=) Parent #2 g.29508429G>T - NF1_000100 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.654+15C>T r.(=) p.(=) Parent #2 g.29508522C>T - NF1_000161 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens Alexandria, Imathia Greek no - 5 Despoina Kalfakakou
./. - c.654+28A>G r.(=) p.(=) Parent #2 g.29508535A>G - NF1_000213 - - - - DNA SEQ-NG-I 1 OVCA - F Kiato, Corinthia - Greek no - 1 Despoina Kalfakakou
./. - c.654+28A>G r.(=) p.(=) Parent #2 g.29508535A>G - NF1_000213 - - - - DNA SEQ-NG-I 1 RCC, RenLes - M Chios - Greek no - 1 Despoina Kalfakakou
./. - c.655-37A>C r.(=) p.(=) Parent #2 g.29508691A>C - NF1_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Sparti - Greek no - 1 Despoina Kalfakakou
./. - c.655-37A>C r.(=) p.(=) Parent #2 g.29508691A>C - NF1_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti - Greek no - 1 Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) Parent #2 g.29508699T>C - NF1_000101 - - - - DNA SEQ-NG-I 1 OVCA - F Rodina, Elis Cephalonia Greek no - 3 Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) Parent #2 g.29508699T>C - NF1_000101 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Athens - Greek no - 3 Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) Parent #2 g.29508699T>C - NF1_000101 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) Parent #2 g.29508699T>C - NF1_000101 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Karystos Greek no - 1 Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) Parent #2 g.29508699T>C - NF1_000101 - - - - DNA SEQ-NG-I 1 OVCA - F Desfina, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) Parent #2 g.29508699T>C - NF1_000101 - - - - DNA SEQ-NG-I 1 BrCa - F Sterna, Kozani Mesolonghos, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.655-29T>C r.(=) p.(=) Parent #2 g.29508699T>C - NF1_000101 - - - - DNA SEQ-NG-I 1 BrCa - F Patra Agrinio Greek no - 1 Despoina Kalfakakou
./. - c.655-23G>T r.(=) p.(=) Parent #2 g.29508705G>T - NF1_000103 - - - - DNA SEQ-NG-I 1 BrCa - F Chios Corfu Greek no - 1 Despoina Kalfakakou
./. - c.696A>G r.(=) p.(=) Parent #2 g.29508769A>G - NF1_000105 - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Agios Petros, Cynuria Greek no - 1 Despoina Kalfakakou
./. - c.696A>G r.(=) p.(=) Parent #2 g.29508769A>G - NF1_000105 - - - - DNA SEQ-NG-I 1 ColPol, CRC, OVCA - F Lagkadia, Arcadia - Greek no - 2 Despoina Kalfakakou
./. - c.696A>G r.(=) p.(=) Parent #2 g.29508769A>G - NF1_000105 - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
./. - c.730+10C>A r.(=) p.(=) Parent #2 g.29508813C>A - NF1_000106 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) Parent #2 g.29508818G>T - NF1_000024 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) Parent #2 g.29508818G>T - NF1_000024 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Metsovo Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) Parent #2 g.29508818G>T - NF1_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Argos Greek no - 1 Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) Parent #2 g.29508818G>T - NF1_000024 - - - - DNA SEQ-NG-I 1 - - F Cythera Pieria Greek no - 1 Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) Parent #2 g.29508818G>T - NF1_000024 - - - - DNA SEQ-NG-I 1 CMM3 - M Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) Parent #2 g.29508818G>T - NF1_000024 - - - - DNA SEQ-NG-I 1 OVCA - F Vilia, Attica - Greek no - 1 Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) Parent #2 g.29508818G>T - NF1_000024 - - - - DNA SEQ-NG-I 1 OVCA - F Phocis Athens Greek no - 1 Despoina Kalfakakou
./. - c.730+15G>T r.(=) p.(=) Parent #2 g.29508818G>T - NF1_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Armenia Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) Parent #2 g.29508820del - NF1_000038 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) Parent #2 g.29508820del - NF1_000038 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) Parent #2 g.29508820del - NF1_000038 - - - - DNA SEQ-NG-I 1 BrCa - F Kazakhstan - Greek no - 1 Despoina Kalfakakou
./. - c.730+17del r.(=) p.(=) Parent #2 g.29508820del - NF1_000038 - - - - DNA SEQ-NG-I 1 CRC, ENC - F Syros - Greek no - 1 Despoina Kalfakakou
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