Unique variants in the FBP1 gene

Information The variants shown are described using the NM_000507.4 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

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     
+/. 1 7 c.778G > A - r.(?) p.(Gly260Arg) Pathogenic g.39746G>A - Lip Hen Moey et al.(2018) FBP1_000004 rs780803192 - - Nur Aisyah Athirah
+/. 1 4 c.392delT - r.(?) p.(Val131Glyfs*71) - g.27448delT - Lip Hen Moey et al.(2018) FBP1_000001 - - - Nur Aisyah Athirah
+/. 1 5 c.472C>T - r.(?) p.(Arg158Trp) Pathogenic g.35234C>T - Lip Hen Moey et al.(2018) FBP1_000003 rs766005419 - - Nur Aisyah Athirah
+/. 1 5i c.568-2A>C - r.spl? p.? - g.38296A>C - Lip Hen Moey et al.(2018) FBP1_000002 - - - Nur Aisyah Athirah
+/. 1 6 c.603delG - r.(?) p.(Lys202Argfs*2) - g.38333delG - Lip Hen Moey et al.(2018) FBP1_000005 - - - Nur Aisyah Athirah
+/. 1 6 c.704delC - r.(?) p.(Pro235Glnfs*42) - g.38434delC - Lip Hen Moey et al.(2018) FBP1_000007 rs1591503565 - - Nur Aisyah Athirah
+/. 1 7 c.778G>A - r.(?) p.(Gly260Arg) Pathogenic g.39746G>A - Lip Hen Moey et al.(2018) FBP1_000004 rs780803192 - - Nur Aisyah Athirah
+/. 1 8 c.881delG - r.(?) p.(Gly294Glufs*11) - g.41733del - Lip Hen Moey et al.(2018) FBP1_000006 - - - Nur Aisyah Athirah
Legend   How to query