Full data view for gene SBDS

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

4 entries on 1 page. Showing entries 1 - 4.
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.-16T>A r.(=) p.(=) Parent #2 g.66460420A>T - SBDS_000019 rs182989808 - Germline - - - - DNA SEQ-NG-I 1 OVCA, TRC - F Kastellorizo Hydra Symi Northern Epirus Greek no - 1 Despoina Kalfakakou
?/? - c.-16T>A r.(=) p.(=) Parent #2 g.66460420A>T - SBDS_000019 rs182989808 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Trikala - Greek no - 1 Despoina Kalfakakou
?/? - c.-16T>A r.(=) p.(=) Parent #2 g.66460420A>T - SBDS_000019 rs182989808 - Germline - - - - DNA SEQ-NG-I 1 - - F Heraklion, Crete Tegea, Arcadia Greek no - 1 Despoina Kalfakakou
?/? - c.-16T>A r.(=) p.(=) Parent #2 g.66460420A>T - SBDS_000019 rs182989808 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Phocis - Greek no - 1 Despoina Kalfakakou
Legend