Variant #0000000851 (NC_000023.11:g.139541181G>A, NM_000133.3:c.383G>A (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.139541181G>A
Published as -
Reference Maimiza Zahari et al. (2018)
DB-ID F9_000015
dbSNP ID rs1000886583
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 2020-11-23 08:56:10 +08:00 (CST)
Date last edited 2021-09-13 12:40:49 +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 +/. 4 c.383G>A - r.(?) p.(Cys128Tyr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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