Full data view for gene FANCD2

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

6 entries on 1 page. Showing entries 1 - 6.
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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.1156T>G r.(?) p.(Phe386Val) Parent #2 g.10088285T>G - FANCD2_000098 rs149125003 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Istiaia, Evia Tsapournia, Evia Greek no - 4 Despoina Kalfakakou
-/- - c.1156T>G r.(?) p.(Phe386Val) Parent #2 g.10088285T>G - FANCD2_000098 rs149125003 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Tsapournia, Evia Greek no - 5 Despoina Kalfakakou
-/- - c.1156T>G r.(?) p.(Phe386Val) Parent #2 g.10088285T>G - FANCD2_000098 rs149125003 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Serres Orestiada Greek no - 1 Despoina Kalfakakou
-/- - c.1156T>G r.(?) p.(Phe386Val) Parent #2 g.10088285T>G - FANCD2_000098 rs149125003 - Germline - - - - DNA SEQ-NG-I 1 PGL2 - M Piraeus Smyrna, Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.1156T>G r.(?) p.(Phe386Val) Parent #2 g.10088285T>G - FANCD2_000098 rs149125003 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kokkino Chorio, Chania Gavalohori, Chania Greek no - 1 Despoina Kalfakakou
./. - c.1156T>G r.(?) p.(Phe386Val) Parent #2 g.10088285T>G - FANCD2_000098 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kyparissia,Messenia Elis - - - 1 Stevi Xera
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