Full data view for gene APC

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

8 entries on 1 page. Showing entries 1 - 8.
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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     

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Panel size     

Owner     
-?/-? - c.6767C>T r.(?) p.(Ala2256Val) Parent #2 g.112178112C>T - APC_000043 rs34919187 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - M Santorini Scheveningen, Netherlands Greek no - 1 Despoina Kalfakakou
-?/-? - c.6767C>T r.(?) p.(Ala2256Val) Parent #2 g.112178112C>T - APC_000043 rs34919187 - Germline - - - - DNA SEQ-NG-I 1 CUP - F Kymi, Evia Limni, Evia Greek no - 1 Despoina Kalfakakou
-?/-? - c.6767C>T r.(?) p.(Ala2256Val) Parent #2 g.112178112C>T - APC_000043 rs34919187 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia Limni, Evia Greek no - 2 Despoina Kalfakakou
-?/-? - c.6767C>T r.(?) p.(Ala2256Val) Parent #2 g.112178112C>T - APC_000043 rs34919187 - Germline - - - - DNA SEQ-NG-I 1 BrCa, NHL - F Kalamata Nafplio Greek no - 1 Despoina Kalfakakou
-?/-? - c.6767C>T r.(?) p.(Ala2256Val) Parent #2 g.112178112C>T - APC_000043 rs34919187 - Germline - - - - DNA SEQ-NG-I 1 BrainCa, TRC - F Zoodochos Pigi, Euboea Chalkida Greek no - 1 Despoina Kalfakakou
-?/-? - c.6767C>T r.(?) p.(Ala2256Val) Parent #2 g.112178112C>T - APC_000043 rs34919187 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Crete Greek no - 1 Despoina Kalfakakou
-?/-? - c.6767C>T r.(?) p.(Ala2256Val) Parent #2 g.112178112C>T - APC_000043 rs34919187 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.6767C>T r.(?) p.(Ala2256Val) Parent #2 g.112178112C>T - APC_000043 rs34919187 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
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