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

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
Date created 2021-06-28 10:42:33 +08:00 (CST)
Date last edited 2021-08-01 13:14:05 +08:00 (CST)
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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