Variant #0000167112 (NC_000001.10:g.171072965G>A, FMO3(NM_001002294.2):c.172G>A)

Individual ID 00103199
Chromosome 1
Allele Parent #1
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.171072965G>A
DNA change (hg38) g.171103824G>A
Published as g.16882G>A
ISCN -
DB-ID FMO3_000007 See all 8 reported entries
Variant remarks -
Reference PubMed: Shimizu 2012
ClinVar ID -
dbSNP ID rs144935285
Origin Germline
Segregation yes
Frequency 6/1280 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00034 View details
Owner Ornicha Prapapan
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.172G>A - r.(?) p.(Val58Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103652 DNA SEQ buccal cells - FMO3 2 Johan den Dunnen