Variant #0000001138 (NC_000023.11:g.139537151T>G, NM_000133.3:c.230T>G (F9))

Individual ID 00000227
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.139537151T>G
Published as c.230T/G
Reference -
DB-ID F9_000021 See all 2 reported entries
dbSNP ID rs1599253805
Frequency 1/10
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 2020-12-07 11:47:39 +08:00 (CST)
Date last edited 2021-09-13 12:32:20 +08:00 (CST)
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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.230T>G c.230T/G r.(?) p.(Val77Gly) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000242 DNA PCR;SEQ F9 6 Nuur Athirah Binti Mohd Daud