Full data view for gene NBN

Information The variants shown are described using the NM_002485.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 OVCA - F Chios - Greek no - 1 Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 BrCa - F Crete Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Agrinio - Greek no - 4 Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 PNCA2 - F Asia Minor Grevena Greek no - 1 Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 PNCA2 - M Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
./. - c.283G>A r.(?) p.(Asp95Asn) Parent #2 g.90993640C>T - NBN_000012 rs61753720 - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
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