Variant #0000167055 (NC_000001.10:g.171076966G>A, FMO3(NM_001002294.2):c.472G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.171076966G>A
DNA change (hg38) g.171107825G>A
Published as -
ISCN -
DB-ID FMO3_000008 See all 27 reported entries
Variant remarks little/moderate substrate-dependent effect, results vary among labs, effect greater when present in cis with p.Glu308Gly: kcat/Km for methimazole reduced 16% (p.Glu158Lys) and 57% (p.Glu158Lys-Glu308Gly) (Allerston 2009). E158K shows 5-fold increased tamoxifen N-oxygenation (Krueger 2006).
Reference PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999
ClinVar ID -
dbSNP ID rs72549321
Origin In vitro (cloned)
Segregation -
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