Full data view for gene FANCI

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

13 entries on 1 page. Showing entries 1 - 13.
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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     

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Geographic origin     

Geographic origin     

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Panel size     

Owner     
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Symi Rhodes Greek no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis, TRC - F Ioannina - Greek no - 2 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Zerma, Konitsa Skado, Naxos Greek no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Evros - Greek no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chalkida Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Kalamata Constantinople Greek no - 5 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CHLC - F Elis Zante Greek no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Philippines - Filipino no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karya, Elassona Kallipefki, Larisa Greek no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Lasithi Greek no - 2 Despoina Kalfakakou
?/? - c.1821+33A>C r.(=) p.(=) Parent #2 g.89828482A>C - FANCI_000020 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kastania, Karditsa Athens Greek no - 2 Despoina Kalfakakou
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