Variant #0000461367 (NC_000001.10:g.171076952C>T, FMO3(NM_001002294.2):c.458C>T)

Individual ID 00226206
Chromosome 1
Allele Unknown
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.171076952C>T
DNA change (hg38) g.171107811C>T
Published as Pro153Leu
ISCN -
DB-ID FMO3_000001 See all 5 reported entries
Variant remarks not in 200 control chromosomes
Reference PubMed: Ferreira 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00102 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 +/+ 4 c.458C>T - r.(?) p.(Pro153Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000227281 DNA SEQ - - FMO3 2 Johan den Dunnen