Variant #0000461333 (NC_000001.10:g.171083482G>T, FMO3(NM_001002294.2):c.1163G>T)

Individual ID 00103149
Chromosome 1
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.171083482G>T
DNA change (hg38) g.171114342G>T
Published as Trp388Leu
ISCN -
DB-ID FMO3_000069
Variant remarks -
Reference PubMed: Ferreira 2013
ClinVar ID -
dbSNP ID rs199975586
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
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 +?/. 7 c.1163G>T - r.(?) p.(Trp388Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103603 DNA SEQ - - FMO3 3 Ornicha Prapapan