Variant #0000000842 (NC_000023.11:g.139560820G>A, F9(NM_000133.3):c.803G>A)

Individual ID 00000175
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.139560820G>A
Published as C268Y
Reference Maimiza Zahari et al. (2018)
DB-ID F9_000005
dbSNP ID rs201688862
Frequency 1/11
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
F9 NM_000133.3 +/. 7 c.803G>A C268Y r.(?) p.(Cys268Tyr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000190 DNA MLPA;PCRlr;SEQ F9 9 Nuur Athirah Binti Mohd Daud