Variant #0000017196 (NC_000001.10:g.171077274G>T, FMO3(NM_001002294.2):c.539G>T)

Individual ID 00103141
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.171077274G>T
DNA change (hg38) g.171108133G>T
Published as g.15475G>T
ISCN -
DB-ID FMO3_000042 See all 4 reported entries
Variant remarks Polymorphic variant (0.08 in Europeans).
Reference PubMed: Dolphin et al. 2000, PubMed: Teresa et al. 2006
ClinVar ID -
dbSNP ID rs75904274
Origin Germline
Segregation no
Frequency 2/24 caucasian
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01258 View details
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 -/- 5 c.539G>T - r.(?) p.(Gly180Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103595 DNA SEQ - - FMO3 1 Ornicha Prapapan