Full data view for gene ERCC4

Information The variants shown are described using the NM_005236.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

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dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

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Geographic origin     

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Panel size     

Owner     
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Nikiforos, Drama Nea Moydania, Chalkidiki Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Crete - Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ancient Epidavros - Greek no - 3 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 CRC, ENC, OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ikonio, Asia Minor Pontus & ─░stanbul Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Kastria, Kalavryta Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Patras Russia Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Livadeia, Boeotia Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios - Greek no - 1 Despoina Kalfakakou
?/? - c.1102+45A>G r.(=) p.(=) Parent #2 g.14026187A>G - ERCC4_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Mikrokampos, Kilkis - Greek no - 1 Despoina Kalfakakou
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