Variant #0000017118 (NC_000001.10:g.171076888G>C, FMO3(NM_001002294.2):c.394G>C)

Individual ID 00103140
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.171076888G>C
DNA change (hg38) g.171107747G>C
Published as g.15089G>C
ISCN -
DB-ID FMO3_000033 See all 3 reported entries
Variant remarks Population-specific polymorphic variant: African Americans (7/260 chromosomes), European Americans (0/240 chromosomes). dbSNP: 0/88 Asian chromosomes. Possibly causative of moderate TMAU; homozygotes excreted ~70% of TMA as TMA N-oxide
Reference PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003
ClinVar ID -
dbSNP ID rs12072582
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00294 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 +?/+? 4 c.394G>C - r.(?) p.(Asp132His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103594 DNA SEQ - - FMO3 1 Ornicha Prapapan