Variant #0000002952 (NC_000009.12:g.41733del, FBP1(NM_000507.4):c.881delG)

Individual ID 00000722
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.41733del
Published as -
Reference Lip Hen Moey et al.(2018)
DB-ID FBP1_000006
dbSNP ID -
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
FBP1 NM_000507.4 +/. 8 c.881delG - r.(?) p.(Gly294Glufs*11) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000815 DNA SEQ FBP1 1 Nur Aisyah Athirah