Full data view for gene PALB2

Information The variants shown are described using the NM_024675.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.3340C>T r.(?) p.(Gln1114*) Parent #2 g.23619195G>A - PALB2_000087 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
?/? - c.3340C>T r.(?) p.Gln1114Ter Parent #1 g.23619195C>T - PALB2_000087 rs1567206756 - Germline - - - - DNA SEQ 1 BrCa - F Pilos,Messenia Alexandria, Egypt - - - 4 Stevi Xera
?/? - c.3340C>T r.(?) p.Gln1114Ter Maternal (confirmed) g.23619195C>T - PALB2_000087 rs1567206756 - Germline - - - - DNA SEQ 1 Healthy/Control - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 4 Stevi Xera
?/? - c.3340C>T r.(?) p.Gln1114Ter Paternal (inferred) g.23619195C>T - PALB2_000087 rs1567206756 - Germline - - - - DNA SEQ 1 Healthy/Control - F Pilos,Messenia & Alexandria, Egypt - - - - 4 Stevi Xera
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