Variant #0000017144 (NC_000001.10:g.171072976C>A, FMO3(NM_001002294.2):c.183C>A)

Individual ID 00103147
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.171072976C>A
DNA change (hg38) g.171103835C>A
Published as g.11177C>A
ISCN -
DB-ID FMO3_000035 See all 3 reported entries
Variant remarks Low-frequency polymorphic variant (0.052 in white, 0.035 in African-Americans) that severely reduces activity. Expected to cause TMAU, but not reported in patients.
Reference PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency see Remarks
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +/+ 3 c.183C>A - r.(?) p.(Asn61Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103601 DNA SEQ - - FMO3 1 Ornicha Prapapan