Variant #0000461353 (NC_000001.10:g.171086265A>T, FMO3(NM_001002294.2):c.1282A>T)

Individual ID 00226199
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.171086265A>T
DNA change (hg38) g.171117125A>T
Published as Thr428Ser
ISCN -
DB-ID FMO3_000080 See all 2 reported entries
Variant remarks not in 200 control chromosomes
Reference PubMed: Ferreira 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 ?/? 9 c.1282A>T - r.(?) p.(Thr428Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227274 DNA SEQ - - FMO3 4 Johan den Dunnen