Full data view for gene EXT1

Information The variants shown are described using the NM_000127.2 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     

Remarks     

Panel size     

Owner     
-?/-? - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Constantinople Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Anthones, Elis Athens Greek no - 4 Despoina Kalfakakou
-?/-? - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Krestena, Elis Derveni, Corinth Greek no - 1 Despoina Kalfakakou
-?/-? - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Raveni, Thesprotia Anthrakitis, Zagorochoria, Ioannina Greek no - 1 Despoina Kalfakakou
-?/-? - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - DNA SEQ-NG-I 1 ENC, ENDO, EnPol, OVCA - F Preveza Constantinople Greek no - 1 Despoina Kalfakakou
-?/-? - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - DNA SEQ-NG-I 1 RCC - M Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1779C>T r.(=) p.(=) Parent #2 g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Nafplio Greek no - 1 Despoina Kalfakakou
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