Unique variants in the WAS gene

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/., ?/. 2 1 c.28C>T WAS c.28C>T r.(?) p.(Pro10Ser) ClinVar g.5149C>T, g.89100709C>T WAS c.28C>T Intan Juliana Abd Hamid et al. (2020),dbSNP, Mohd Farid Baharin et al.(2015) WAS_000002 rs202182978, rs760256649 - - Nur Aisyah Athirah, Noorzalifah Binti Mazuki
+/., ?/. 2 2 c.264C>A WAS c.264C>A r.(?) p.(Tyr88*) ClinVar g.104192097G>T, g.48684414C>A WAS c.264C>A Intan Juliana Abd Hamid et al. (2020), Mohd Farid Baharin et al.(2015) WAS_000003 rs1057520771, rs200585150 - - Nur Aisyah Athirah, Noorzalifah Binti Mazuki
?/. 1 - c.523C>A WAS c.400C>A r.(?) p.(Pro175Thr) ClinVar g.88902933C>A WAS c.400C>A Intan Juliana Abd Hamid et al. (2020) WAS_000004 rs79496699 - - Noorzalifah Binti Mazuki
+/. 1 10 c.1264G>T - r.(?) p.(Ala422Ser) - g.10196G>T - Mohd Farid Baharin et al.(2016) WAS_000001 rs1448275854 - - Nur Aisyah Athirah
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