Variant #0000019255 (NC_000001.10:g.171059708_171071933del, FMO3(NM_001002294.2):c.-421_133-993del)

Individual ID 00103154
Chromosome 1
Allele Both (homozygous)
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.171059708_171071933del
DNA change (hg38) g.171090567_171102792del
Published as g.-2092 to 10145del
ISCN -
DB-ID FMO3_000091 See all 2 reported entries
Variant remarks 12226-bp deletion including exons 1 and 2 and the translational start codon. One homozygous proband of Greek ancestry.
Reference PubMed: Forrest et al. 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ian Phillips
Database submission license No license selected
Created by Ian Phillips
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ _1_2i c.-421_133-993del - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103608 DNA SEQ - - FMO3 1 Ian Phillips