Full data view for gene SBDS

Information The variants shown are described using the NM_016038.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.184A>T r.(?) p.(Lys62*) Parent #2 g.66459273T>A - SBDS_000016 rs120074160 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Salichli, Asia Minor Domokos Greek no - 1 Despoina Kalfakakou
+/+ - c.184A>T r.(?) p.(Lys62*) Parent #2 g.66459273T>A - SBDS_000016 rs120074160 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor İzmir Greek no - 1 Despoina Kalfakakou
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