Full data view for gene NBN

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

7 entries on 1 page. Showing entries 1 - 7.
Legend  

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.657_661del r.(?) p.(Lys219Asnfs*16) Parent #2 g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sitomena, Aetolia-Acarnania Malevro, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
+/+ - c.657_661del r.(?) p.(Lys219Asnfs*16) Parent #2 g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Peloponnese Greek no - 1 Despoina Kalfakakou
+/+ - c.657_661del r.(?) p.(Lys219Asnfs*16) Parent #2 g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli Laurium Greek no - 1 Despoina Kalfakakou
+/+ - c.657_661del r.(?) p.(Lys219Asnfs*16) Maternal (confirmed) g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline ? - - - DNA SEQ 0 Healthy/Control - F Evia Lefkada Greek no - 3 Despoina Kalfakakou
+/+ - c.657_661del r.(?) p.(Lys219Asnfs*16) Parent #2 g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline ? - - - DNA SEQ 0 Healthy/Control - F Lefkada - Greek no - 2 Despoina Kalfakakou
+/+ - c.657_661del r.(?) p.(Lys219Asnfs*16) Parent #2 g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline ? - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos Astakos, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
+/+ - c.657_661del r.(?) p.(Lys219Asnfs*16) Parent #2 g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Sitomena, Aetolia-Acarnania Maleyro, Aetolia-Acarnania - - - 1 Despoina Kalfakakou
Legend