Variant #0000017117 (NC_000001.10:g.171085412G>T, FMO3(NM_001002294.2):c.1248G>T)

Individual ID 00103184
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.171085412G>T
DNA change (hg38) g.171116272G>T
Published as g.23613G>T
ISCN -
DB-ID FMO3_000032 See all 3 reported entries
Variant remarks Rare variant: 1/400 chromosomes (non-Latino white American), 0/404 chromosomes (Hispanic American), 0/402 chromosomes (African American)
Reference PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 -/- 8 c.1248G>T - r.(?) p.(Lys416Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103638 DNA SEQ - - FMO3 1 Ornicha Prapapan