All variants in the STXBP2 gene

Information The variants shown are described using the NM_001127396.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

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     
-/. 18 c.1567A>G - r.(?) p.(Ile523Val) Benign g.15278A>G - Adiratna Mat Ripen et al.(2020) STXBP2_000001 rs6791 - - Nur Aisyah Athirah
-/. 18 c.1567A>G - r.(?) p.(Ile523Val) Benign g.15278A>G - Adiratna Mat Ripen et al.(2020) STXBP2_000001 rs6791 - - Nur Aisyah Athirah
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