Variant #0000017097 (NC_000001.10:g.171072991G>T, FMO3(NM_001002294.2):c.198G>T)

Individual ID 00103159
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.171072991G>T
DNA change (hg38) g.171103850G>T
Published as g.11192G>T
ISCN -
DB-ID FMO3_000012 See all 3 reported entries
Variant remarks Rare variant. 2 probands of Irish origin.
Reference PubMed: Akerman et al. 1999, PubMed: Treacy et al. 1998
ClinVar ID -
dbSNP ID rs72549323
Origin Germline
Segregation yes
Frequency 0/360
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 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 +/+ 3 c.198G>T - r.(?) p.(Met66Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103613 DNA SEQ - - FMO3 1 Ornicha Prapapan