Variant #0000000909 (NC_000023.11:g.139537080_139537081delAG, NM_000133.3:c.159_160delAG (F9))

Individual ID 00000177
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.139537080_139537081delAG
Published as E54Vfs*7
Reference Maimiza Zahari et al. (2018)
DB-ID F9_000016
dbSNP ID -
Frequency 1/2
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-24 12:50:57 +08:00 (CST)
Date last edited 2020-12-14 16:32:07 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
F9 NM_000133.3 +/. 2 c.159_160delAG E54Vfs*7 r.(?) p.(Glu54Valfs*7) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000192 DNA MLPA;PCRlr;SEQ F9 2 Nuur Athirah Binti Mohd Daud