Variant #0000167111 (NC_000001.10:g.171073002C>T, FMO3(NM_001002294.2):c.209C>T)

Individual ID 00103198
Chromosome 1
Allele Parent #2
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.171073002C>T
DNA change (hg38) g.171103861C>T
Published as g.16919C>T
ISCN -
DB-ID FMO3_000014 See all 5 reported entries
Variant remarks -
Reference PubMed: Shimizu 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 2/1280 chromosomes
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.209C>T - r.(?) p.(Pro70Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103651 DNA SEQ buccal cells - FMO3 2 Johan den Dunnen