Variant #0000018043 (NC_000001.10:g.171061911G>T, FMO3(NM_001002294.2):c.112G>T)

Individual ID 00103149
Chromosome 1
Allele Maternal (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.171061911G>T
DNA change (hg38) g.171092770G>T
Published as Gly38Trp
ISCN -
DB-ID FMO3_000104 See all 2 reported entries
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) Variant not found in online data sets
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 +?/. 7 c.112G>T - r.(?) p.(Gly38Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103603 DNA SEQ - - FMO3 3 Ornicha Prapapan