Variant #0000017105 (NC_000001.10:g.171076922T>A, FMO3(NM_001002294.2):c.428T>A)

Individual ID 00103183
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.171076922T>A
DNA change (hg38) g.171107781T>A
Published as g.15123T>A
ISCN -
DB-ID FMO3_000020
Variant remarks Polymorphic variant (0.07 frequency). One proband, in cis with the common polymorphic variant p.Glu158Lys and compound het with p.Pro153Leu.
Reference PubMed: Basarab et al. 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 6/88 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 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 ?/? 4 c.428T>A - r.(?) p.(Val143Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103637 DNA SEQ - - FMO3 1 Ornicha Prapapan