Variant #0000017087 (NC_000001.10:g.171072975A>G, FMO3(NM_001002294.2):c.182A>G)

Individual ID 00103165
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.171072975A>G
DNA change (hg38) g.171103834A>G
Published as g.11177A>G
ISCN -
DB-ID FMO3_000002 See all 3 reported entries
Variant remarks Rare variant. 2 patients compound hets with P153L
Reference PubMed: Dolphin et al. 2000
ClinVar ID -
dbSNP ID rs72549322
Origin Germline
Segregation yes
Frequency 0/118 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Ornicha Prapapan
Database submission license No license selected
Created by Ornicha Prapapan
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
FMO3 NM_001002294.2 +/+ 3 c.182A>G - r.(?) p.(Asn61Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103619 DNA SEQ - - FMO3 1 Ornicha Prapapan