Variant #0000461339 (NC_000001.10:g.171076935C>T, FMO3(NM_001002294.2):c.441C>T)

Individual ID 00226193
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.171076935C>T
DNA change (hg38) g.171107794C>T
Published as Ser147Ser
ISCN -
DB-ID FMO3_000092 See all 6 reported entries
Variant remarks -
Reference PubMed: Ferreira 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.11445 View details
Owner Johan den Dunnen
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 +?/- 4 c.441C>T - r.(?) p.(Ser147=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227268 DNA SEQ - - FMO3 3 Johan den Dunnen