Variant #0000000849 (NC_000023.11:g.139537144C>T, F9(NM_000133.3):c.223C>T)

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.139537144C>T
Published as R75*
Reference Maimiza Zahari et al. (2018), dbSNP, (OMIM 0015), ClinVar
DB-ID F9_000011
dbSNP ID rs137852227
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 +/. 2 c.223C>T R75* r.(?) p.(Arg75*) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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