Genomic variant #0000017091

Individual ID 00103136
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.171076936G>T
DNA change (hg38) g.171107795G>T
Published as g.15137G>T
ISCN -
DB-ID FMO3_000006
Variant remarks Rare variant. 1/140 Korean chromosomes. Truncated protein. Expected to cause TMAU; het had low FMO3 activity as judged by low theobromine/caffeine ratio (0.64)
Reference PubMed: Park et al. 1999
ClinVar ID -
dbSNP ID rs72549325
Origin Germline
Segregation ?
Frequency 1/140 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Ornicha Prapapan
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 4 c.442G>T - r.(?) p.(Gly148*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103590 DNA SEQ - - FMO3 1 Ornicha Prapapan