Variant #0000017093 (NC_000001.10:g.171076966G>A, FMO3(NM_001002294.2):c.472G>A)

Individual ID 00103145
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.171076966G>A
DNA change (hg38) g.171107825G>A
Published as g.15167G>A
ISCN -
DB-ID FMO3_000008 See all 27 reported entries
Variant remarks Common polymorphic variant: 0.48 (African),0.42 (European), 0.21 (Asian) (HapMAP). Effect greater when present in cis with p.Glu308Gly. Associated with increased risk of sudden infant death syndrome (SIDS) (Poetsch et al 2010); homozygotes for E158K-E308G in cis can exhibit transient childhood TMAU
Reference PubMed: Brunelle et al. 1997, PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998, PubMed: Zschocke et al. 1999, PubMed: Park et al. 1999, PubMed: Furnes et al. 2003, PubMed: Poetsch et al. 2010
ClinVar ID -
dbSNP ID rs2266782
Origin Germline
Segregation no
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.37494 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 -/- 4 c.472G>A - r.(?) p.(Glu158Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Genes screened     

Variants found     

Owner     
0000103599 DNA SEQ - - FMO3 1 Ornicha Prapapan