Full data view for gene NF1

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

21 entries on 1 page. Showing entries 1 - 21.
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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.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
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