Global Variome shared LOVD
FMO3 (flavin containing monooxygenase 3)
LOVD v.3.0 Build 30b [
Current LOVD status
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Curators:
Elizabeth A. Shephard
,
Ian Phillips
, and
Sunil Kumar Veeravalli
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Unique variants in the FMO3 gene
The variants shown are described using the NM_001002294.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
Haplotype
: haplotype on which variant was found
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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88 entries on 1 page. Showing entries 1 - 88.
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How to query
Effect
Reported
Exon
DNA change (cDNA)
Haplotype
RNA change
Protein
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Owner
-/-
1
_1
c.-979C>G
-
r.(=)
p.(=)
-
benign
g.171059150C>G
g.171090009C>G
-2650C>G
-
FMO3_000095
no effect on transcription in vitro
PubMed: Koukouritaki et al. 2005
-
rs1736560
Germline
?
HapMap 0.332 (Eur), 0.558 (Jpn), 0.124 (Afr)
-
-
-
Ian Phillips
-/-
1
_1
c.-918C>T
-
r.(=)
p.(=)
-
benign
g.171059211C>T
g.171090070C>T
-2589C>T
-
FMO3_000096
no effect on transcription in vitro
PubMed: Koukouritaki et al. 2005
-
-
Germline
?
0.040 (white American), 0.007 (African American), 0.007 (Hispanic American)
-
-
-
Ian Phillips
-/-
1
_1
c.-872T>A
-
r.(=)
p.(=)
-
benign
g.171059257T>A
g.171090116T>A
-2543T>A
-
FMO3_000097
no effect on transcription in vitro
PubMed: Koukouritaki et al. 2005
-
rs12404218
Germline
?
HapMap 0.066 (Eur), 0.256 (Jpn), 0.080 (Afr)
-
-
-
Ian Phillips
?/?
1
_1
c.-506G>C
-
r.(=)
p.(=)
-
VUS
g.171059623G>C
g.171090482G>C
-2177G>C
-
FMO3_000098
increases transcription in vitro by up to 8-fold, effect in vivo unknown
PubMed: Koukouritaki et al. 2005
-
rs3754491
Germline
?
HapMap 0.100 (Eur), 0.244 (Jpn), 0.075 (Afr)
-
-
-
Ian Phillips
?/?
1
_1
c.-435G>A
-
r.(=)
p.(=)
-
VUS
g.171059694G>A
g.171090553G>A
-2106G>A
-
FMO3_000099
decreases transcription in vitro, effect in vivo unknown
PubMed: Koukouritaki et al. 2005
-
rs16864006
Germline
?
HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr)
-
-
-
Ian Phillips
?/?
1
_1
c.-428A>G
-
r.(=)
p.(=)
-
VUS
g.171059701A>G
g.171090560A>G
-2099A>G
-
FMO3_000100
effect unknown
PubMed: Koukouritaki et al. 2005
-
-
Germline
?
0/1204 control chromosomes
-
-
-
Ian Phillips
+/+
2
_1_2i
c.-421_133-993del
-
r.(?), r.?
p.?
-
pathogenic (recessive)
g.171059708_171071933del
g.171090567_171102792del
g.-2092 to 10145del
-
FMO3_000091
Expected to affect metabolism of drug substrates of FMO3,
1 more item
PubMed: Forrest et al. 2006
-
-
Germline, SUMMARY record
-, yes
-
-
-
-
Ian Phillips
?/?
1
_1
c.-290T>C
-
r.(=)
p.(=)
-
VUS
g.171059839T>C
g.171090698T>C
-1961T>C
-
FMO3_000101
no effect on transcription in vitro
PubMed: Koukouritaki et al. 2005
-
rs16864007
Germline
?
HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr)
-
-
-
Ian Phillips
-/-, ?/?
2
2
c.72G>T
-
r.(?)
p.(Glu24Asp), p.Glu24Asp
-
benign, NA
g.171061871G>T
g.171092730G>T
g.72G>T
-
FMO3_000034
small increase in kcat/Km for TMA and methimazole; no effect for sulindac or ethylenethiourea
PubMed: Koukouritaki 2005
,
PubMed: Koukouritaki 2007
,
1 more item
-
-
Germline, In vitro (cloned)
-, no
2/400 chromosomes (non-Latino white), 0/404 (Hispanic American), 0/402 (African American)
-
-
-
Ornicha Prapapan
+/+
3
2
c.94G>A
-
r.(?)
p.(Glu32Lys), p.Glu32Lys
-
NA, pathogenic (recessive)
g.171061893G>A
g.171092752G>A
g.94G>A
-
FMO3_000003
abolishes enzyme activity for TMA and for methimazole and 5-DPT, rare variant. Het in 1 individual,
1 more item
PubMed: Zhang 2003
,
PubMed: Zhang et al. 2003
-
rs72549320
Germline, In vitro (cloned)
-, yes
0/98 chromosomes
-
-
-
Ornicha Prapapan
+/+
1
2
c.110T>C
-
r.(?)
p.(Ile37Thr)
-
pathogenic (recessive)
g.171061909T>C
g.171092768T>C
g.110T>C
-
FMO3_000029
het in 1 Italian TMAU proband
PubMed: Teresa et al. 2006
-
-
Germline
yes
0/200 chromosomes
-
-
-
Ornicha Prapapan
+?/.
2
7
c.112G>T
-
r.(?)
p.(Gly38Trp)
-
likely pathogenic (recessive)
g.171061911G>T
g.171092770G>T
Gly38Trp
-
FMO3_000104
not in 200 control chromosomes
PubMed: Ferreira 2013
-
rs199975586
Germline
?
-
-
-
-
Johan den Dunnen
,
Ornicha Prapapan
+?/.
1
-
c.116G>A
-
r.(?)
p.(Gly39Asp)
-
likely pathogenic
g.171061915G>A
g.171092774G>A
-
-
FMO3_000116
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/-
1
3
c.136C>A
-
r.(?)
p.(His46Asn)
-
benign
g.171072929C>A
g.171103788C>A
-
-
FMO3_000046
Rare variant. 1/140 chromosomes in Koreans
PubMed: Park et al. 1999
-
-
Germline
no
1/140 chromosomes
-
-
-
Ornicha Prapapan
+/+
1
3
c.151A>G
-
r.(?)
p.(Arg51Gly)
-
pathogenic (recessive)
g.171072944A>G
g.171103803A>G
g.11145A>G
-
FMO3_000030
Rare variant. 1 homozygous proband.
PubMed: Mazon Ramos et al. 2003
-
-
Germline
yes
-
-
-
-
Ornicha Prapapan
+/+
1
3
c.154G>A
-
r.(?)
p.(Ala52Thr)
-
pathogenic (recessive)
g.171072947G>A
g.171103806G>A
g.11148G>T
-
FMO3_000018
Het in 1 of 8 patients
PubMed: Akerman et al. 1999
-
rs72549321
Germline
yes
0/60 chromosomes
-
-
-
Ornicha Prapapan
+/+, ?/.
8
3
c.172G>A
-
r.(?)
p.(Val58Ile), p.Val58Ile
-
NA, pathogenic (recessive), VUS
g.171072965G>A
g.171103824G>A
g.11166G>A, g.16882G>A
-
FMO3_000007
1 homozygous;
Clinindb (India)
, 1 Thai; impaired TMA N-oxygenation capacity,
4 more items
PubMed: Kubota 2002
,
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Shimizu 2012
-
rs144935285
,
rs72549332
Germline, In vitro (cloned), SUMMARY record
-, yes
1/2795 individuals, 16/2795 individuals, 6/1280 chromosomes
-
-
-
Ornicha Prapapan
,
Mohammed Faruq
+/+
3
3
c.182A>G
-
r.(?)
p.(Asn61Ser), p.Asn61Ser
-
NA, pathogenic (recessive)
g.171072975A>G
g.171103834A>G
g.11177A>G
-
FMO3_000002
abolishes N-oxygenation of TMA, but no effect on S-oxygenation of methimazole,
2 more items
PubMed: Dolphin 2000
,
PubMed: Dolphin et al. 2000
-
rs72549322
,
rs72549331
Germline, In vitro (cloned), SUMMARY record
-, yes
0/118 chromosomes
-
-
-
Ornicha Prapapan
+/+
3
3
c.183C>A
-
r.(?)
p.(Asn61Lys), p.Asn61Lys
-
NA, pathogenic (recessive)
g.171072976C>A
g.171103835C>A
g.11177C>A
-
FMO3_000035
3 more items
PubMed: Koukouritaki 2005
,
PubMed: Koukouritaki 2007
,
1 more item
-
-
Germline, In vitro (cloned), SUMMARY record
-, ?
see Remarks
-
-
-
Ornicha Prapapan
+/+
2
3
c.192del
-
r.(?)
p.(Glu65Argfs*2)
-
pathogenic (recessive)
g.171072985del
g.171103844del
A191 deletion; g.11185delA
-
FMO3_000036
Expected to affect metabolism of drug substrates of FMO3,
1 more item
PubMed: Zhang et al. 2003
-
-
Germline, SUMMARY record
-, yes
0/174 Chromosomes
-
-
-
Ornicha Prapapan
+/+
3
3
c.198G>T
-
r.(?)
p.(Met66Ile), p.Met66Ile
-
NA, pathogenic (recessive)
g.171072991G>T
g.171103850G>T
g.11192G>T
-
FMO3_000012
abolishes activity for TMA, Rare variant. 2 probands of Irish origin.,
1 more item
PubMed: Treacy 1998
,
PubMed: Akerman 1999
,
PubMed: Akerman et al. 1999
,
PubMed: Treacy et al. 1998
-
rs72549323
Germline, In vitro (cloned), SUMMARY record
-, yes
0/360
-
-
-
Ornicha Prapapan
+/+, +/.
5
3
c.209C>T
-
r.(?)
p.(Pro70Leu), p.Pro70Leu
-
NA, pathogenic (recessive)
g.171073002C>T
g.171103861C>T
g.16919C>T
-
FMO3_000014
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation,
1 more item
PubMed: Fujieda 2003
,
PubMed: Shimizu 2012
-
-
Germline, In vitro (cloned), SUMMARY record
-, yes
2/1280 chromosomes
-
-
-
Johan den Dunnen
,
Ornicha Prapapan
+/+
3
3
c.245T>C
-
r.(?)
p.(Met82Thr), p.Met82Thr
-
NA, pathogenic (recessive)
g.171073038T>C
g.171103897T>C
g.11239T>C
-
FMO3_000019
abolishes activity for TMA and methimazole,
2 more items
PubMed: Murphy 2000
,
PubMed: Murphy et al. 2000
-
rs72549324
Germline, In vitro (cloned), SUMMARY record
-, yes
0/50 chromosomes
-
-
-
Ornicha Prapapan
-/-, -?/.
3
4
c.341A>G
-
r.(?)
p.(Asn114Ser)
-
benign, likely benign
g.171076835A>G
g.171107694A>G
g.15036A>G
-
FMO3_000005
classification based on frequency in 305 unrelated individuals,
1 more item
PubMed: Le 2019
,
PubMed: Shimizu 2012
,
PubMed: Shimizu et al. 2007
-
rs186763441
Germline
no
0/100 chromosomes, 1/1280 chromosomes, frequency 0.014
-
-
-
Global Variome, with Curator vacancy
,
Ornicha Prapapan
+/+
1
4_9
c.[341A>G;1322T>C]
-
-
p.[Asn114Ser;Ile441Thr]
-
NA
g.[171076835A>G;171086305T>C]
-
-
-
FMO3_000000
1 more item
PubMed: Shimizu 2012
-
-
In vitro (cloned)
-
-
-
-
-
Ornicha Prapapan
+?/+?
3
4
c.394G>C
-
r.(?)
p.(Asp132His), p.Asp132His
-
likely pathogenic (recessive), NA
g.171076888G>C
g.171107747G>C
g.15089G>C
-
FMO3_000033
expected to have a moderate substrate-dependent effect on metabolism of drug substrates of FMO3,
2 more items
PubMed: Cashman 2003
,
PubMed: Furnes et al. 2003
,
PubMed: Lattard et al. 2003
-
rs12072582
Germline, In vitro (cloned), SUMMARY record
-, ?
-
-
-
-
Ornicha Prapapan
?/?
1
4
c.428T>A
-
r.(?)
p.(Val143Glu)
-
VUS
g.171076922T>A
g.171107781T>A
g.15123T>A
-
FMO3_000020
1 more item
PubMed: Basarab et al. 1999
-
-
Germline
yes
6/88 chromosomes
-
-
-
Ornicha Prapapan
+?/-, -/-, -/.
6
4
c.441C>T
-
r.(=), r.(?)
p.(=), p.(Ser147=)
-
benign, likely pathogenic
g.171076935C>T
g.171107794C>T
15019A>C (S147S), 20852C>T, Ser147Ser
-
FMO3_000092
VKGL data sharing initiative Nederland
PubMed: Ferreira 2013
,
PubMed: Fujieda 2003
,
PubMed: Koukouritaki et al. 2005
-
rs1800822
CLASSIFICATION record, Germline
no
HapMap 0.066 (Eur), 0.227 (Jpn), 0.031 (Afr)
-
-
-
Johan den Dunnen
,
Ian Phillips
,
VKGL-NL_Nijmegen
+/+
1
4
c.442G>T
-
r.(?)
p.(Gly148*)
-
pathogenic (recessive)
g.171076936G>T
g.171107795G>T
g.15137G>T
-
FMO3_000006
1 more item
PubMed: Park et al. 1999
-
rs72549325
Germline
?
1/140 chromosomes
-
-
-
Ornicha Prapapan
-/-
1
4
c.445C>T
-
r.(?)
p.(His149Tyr)
-
benign
g.171076939C>T
g.171107798C>T
-
-
FMO3_000055
Rare variant. 1 in 140 Korean chromosomes.
PubMed: Park et al. 1999
-
-
Germline
no
1/140 chromosomes
-
-
-
Ornicha Prapapan
+/+, +/.
6
4
c.458C>T
-
r.(?)
p.(Pro153Leu), p.Pro153Leu
-
NA, pathogenic, pathogenic (recessive)
g.171076952C>T
g.171107811C>T
g.15153C>T, Pro153Leu
-
FMO3_000001
abolishes activity for TMA and methimazole, not in 200 control chromosomes,
3 more items
PubMed: Mayatepek 2004
,
PubMed: Treacy 1998
,
PubMed: Dolphin 1997
,
PubMed: Ferreira 2013
,
1 more item
-
rs72549326
CLASSIFICATION record, Germline, In vitro (cloned)
-, yes
0/60 chromosomes
-
-
-
Johan den Dunnen
,
Ornicha Prapapan
,
VKGL-NL_Nijmegen
+?/-, +?/., +?/?, -/-, -/., ?/., ?/?
27
4
c.472G>A
-
r.(?)
p.(Glu158Lys), p.Glu158Lys
-
benign, likely pathogenic, likely pathogenic (recessive), NA, VUS
g.171076966G>A
g.171107825G>A
FMO3(NM_001002294.3):c.472G>A (p.E158K), g.15167G>A, Glu158Lys
-
FMO3_000008
caffeine and clozapine: no effect on metabolism, not in 200 control chromosomes,
5 more items
PubMed: Soderberg 2012
,
PubMed: Dolphin 1997
,
PubMed: Treacy 1998
,
PubMed: Zschocke 1999
,
5 more items
-
rs2266782
,
rs72549321
CLASSIFICATION record, Germline, In vitro (cloned)
-, no, yes
-
-
-
-
Johan den Dunnen
,
Elizabeth A. Shephard
,
Ornicha Prapapan
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
-/.
1
4i
c.484+65_484+67del
-
r.(=)
p.(=)
-
benign
g.171077043_171077045del
g.171107902_171107904del
20960_20962delCTT
-
FMO3_000110
-
PubMed: Fujieda 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
4i
c.485-22G>A
-
r.(=)
p.(=)
-
benign
g.171077198G>A
g.171108057G>A
21115G>A
-
FMO3_000111
-
PubMed: Fujieda 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/+
2
5
c.517A>C
-
r.(?)
p.(Ser173Arg), p.Ser173Arg
-
NA, pathogenic (recessive)
g.171077252A>C
g.171108111A>C
S173R
-
FMO3_000102
impaired benzydamine N-oxygenation in compound het with P153L,
1 more item
PubMed: Mayatepek 2004
,
PubMed: Mayatepek et al. 2004
-
-
Germline, In vitro (cloned)
-, ?
-
-
-
-
Elizabeth A. Shephard
+?/-, -/-
4
5
c.539G>T
-
r.(?)
p.(Gly180Val), p.Gly180Val
-
benign, likely pathogenic, NA
g.171077274G>T
g.171108133G>T
g.15475G>T, Glu180Val
-
FMO3_000042
no effect on N-oxygenation of TMA or S-oxygenation of methimazole, not in 200 control chromosomes,
1 more item
PubMed: Dolphin 2000
,
PubMed: Dolphin et al. 2000
,
PubMed: Teresa et al. 2006
,
PubMed: Ferreira 2013
-
rs75904274
Germline, In vitro (cloned)
-, no
2/24 caucasian
-
-
-
Johan den Dunnen
,
Ornicha Prapapan
+/+, -?/-?
3
5
c.560T>C
-
r.(?)
p.(Val187Ala), p.Val187Ala
-
NA, pathogenic (recessive)
g.171077295T>C
g.171108154T>C
-
-
FMO3_000070
Expected to affect metabolism of drug substrates of FMO3, when in cis with p.Glu158Lys,
2 more items
PubMed: Motika 2009
,
PubMed: Motika et al. 2009
-
rs28363549
Germline, In vitro (cloned)
-, yes
-
-
-
-
Ornicha Prapapan
+/+
4
5
c.584C>T
-
r.(?)
p.(Ser195Leu), p.Ser195Leu
-
NA, pathogenic (recessive)
g.171077319C>T
g.171108178C>T
g.21236C>T
-
FMO3_000017
Expected to affect N-oxygenation of drug substrates of FMO3,
1 more item
PubMed: Park 1999
,
PubMed: Shimizu 2012
-
-
Germline, In vitro (cloned), SUMMARY record
-, yes
1/1280 chromosomes, 1/140 chromosomes
-
-
-
Ornicha Prapapan
+/+
4
5
c.591_592del
-
r.(?)
p.(Cys197*)
-
pathogenic (recessive)
g.171077326_171077327del
g.171108185_171108186del
Cys197stop, g.21243_21244TGdel
-
FMO3_000037
-
PubMed: Shimizu 2012
,
PubMed: Yamazaki 2007
-
rs3832024
Germline
yes
-
-
-
-
Ornicha Prapapan
+/+
1
5
c.591_594delinsAA
-
r.(?)
p.(Cys197*)
-
pathogenic (recessive)
g.171077326_171077329delinsAA
g.171108185_171108188delinsAA
21243_21244delTG, 21246T>A (Asp198Glu)
-
FMO3_000109
-
PubMed: Fujieda 2003
-
rs3832024
Germline
yes
-
-
-
-
Ornicha Prapapan
?/?
1
5
c.594T>A
-
r.(?)
p.(Asp198Glu)
-
VUS
g.171077329T>A
g.171108188T>A
g.15531T>A
-
FMO3_000021
1 more item
PubMed: Fujieda et al. 2003
, Shimizu et al. (in press)
-
-
Germline
yes
0/44 chromosomes
-
-
-
Ornicha Prapapan
+?/+?
1
5
c.596T>C
-
r.(?)
p.(Ile199Thr)
-
likely pathogenic (recessive)
g.171077331T>C
g.171108190T>C
g.155533T>C
-
FMO3_000022
Rare variant. 2 het probands. Probably causative of TMAU
PubMed: Zschocke et al. 1999
-
-
Germline
yes
-
-
-
-
Ornicha Prapapan
+/+
3
5
c.602C>A
-
r.(?)
p.(Thr201Lys), p.Thr201Lys
-
NA, pathogenic (recessive)
g.171077337C>A
g.171108196C>A
g.15539C>A
-
FMO3_000088
Expected to affect metabolism of drug substrates of FMO3,
2 more items
PubMed: Shimizu 2006
,
PubMed: Shimizu et al. 2006
-
rs72549324
Germline, In vitro (cloned), SUMMARY record
-, yes
0/70 chromosomes
-
-
-
Ornicha Prapapan
+/+, -?/-?
8
5
c.613C>T
-
r.(?)
p.(Arg205Cys), p.Arg205Cys
-
likely benign, NA, pathogenic (recessive)
g.171077348C>T
g.171108207C>T
21265C>T, Arg205Cys, g.21265C>T
-
FMO3_000041
75% reduction in activity for TMA, Expected to affect metabolism of drug substrates of FMO3,
2 more items
PubMed: Fujieda 2003
,
PubMed: Shimizu 2007
,
PubMed: Shimizu 2012
,
PubMed: Yamazaki 2007
-
rs2266782
,
rs28363549
Germline, In vitro (cloned), SUMMARY record
-, no, yes
2/27 cases
-
-
-
Ornicha Prapapan
-/., ?/-
5
5i
c.627+10C>G
-
r.(=), r.(?)
p.(=)
-
benign, VUS
g.171077372C>G
g.171108231C>G
FMO3(NM_001002294.3):c.627+10C>G, IVS5+10C>G
-
FMO3_000108
not in 200 control chromosomes, VKGL data sharing initiative Nederland
PubMed: Ferreira 2013
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
+/+
2
6
c.668G>A
-
r.(?)
p.(Arg223Gln)
-
pathogenic (recessive)
g.171079979G>A
g.171110838G>A
g.18177G>A
-
FMO3_000004
Expected to affect metabolism of drug substrates of FMO3,
1 more item
Preti et al. 2002 J. Invest Dermatol 119, 244
-
rs2266780
Germline, SUMMARY record
-, yes
0/88 chromosomes
-
-
-
Ornicha Prapapan
+?/.
1
6
c.695A>T
-
r.(?)
p.(Asp232Val)
-
likely pathogenic (recessive)
g.171080006A>T
g.171110865A>T
-
-
FMO3_000105
-
PubMed: Ferreira 2013
-
-
Germline
-
-
-
-
-
Elizabeth A. Shephard
+/+
3
6
c.713G>A
-
r.(?)
p.(Arg238Gln), p.Arg238Gln
-
NA, pathogenic (recessive)
g.171080024G>A
g.171110883G>A
g.18225G>A
-
FMO3_000044
abolished activity, impaired benzydamine N-oxygenation in homozygotes,
1 more item
PubMed: Mayatepek 2004
,
PubMed: Mayatepek 2004
,
PubMed: Allerston 2009
,
1 more item
-
-
Germline, In vitro (cloned)
-, yes
-
-
-
-
Ornicha Prapapan
+/+
1
6
c.713G>C
-
r.(?)
p.(Arg238Pro)
-
pathogenic (recessive)
g.171080024G>C
g.171110883G>C
g.18225G>C
-
FMO3_000023
1 Italian proband who exhibits fishy body odour. Compound het for R238P and G475D
PubMed: Teresa et al. 2006
-
-
Germline
yes
0/200 chromosomes
-
-
-
Ornicha Prapapan
+?/-, -/-, -/., ?/?
6
6
c.769G>A
-
r.(?)
p.(Val257Met), p.Val257Met
-
benign, likely pathogenic, NA
g.171080080G>A
g.171110939G>A
g.18281G>A, Val257Met
-
FMO3_000009
no effect on metabolism of caffeine or clozapine, not in 200 control chromosomes,
3 more items
PubMed: Dolphin 2000
,
PubMed: Teresa 2006
,
PubMed: Ferreira 2013
,
PubMed: Sachse 1999
,
1 more item
-
rs1736557
CLASSIFICATION record, Germline, In vitro (cloned)
-, no
-
-
-
-
Johan den Dunnen
,
Ornicha Prapapan
,
VKGL-NL_Nijmegen
+/+
3
6
c.778A>G
-
r.(?)
p.(Met260Val), p.Met260Val
-
NA, pathogenic (recessive)
g.171080089A>G
g.171110948A>G
g.18290A>G
-
FMO3_000031
expected to affect N-oxygenation and S-oxygenation of drug substrates of FMO3,
2 more items
PubMed: Shimizu 2006
,
PubMed: Shimizu et al. 2006
-
-
Germline, In vitro (cloned), SUMMARY record
-, yes
-
-
-
-
Ornicha Prapapan
?/.
1
-
c.818C>G
-
r.(?)
p.(Pro273Arg)
-
VUS
g.171080129C>G
g.171110988C>G
FMO3(NM_001319173.1):c.758C>G (p.P253R)
-
FMO3_000120
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.830T>C
-
r.(?)
p.(Val277Ala)
-
likely benign
g.171083149T>C
g.171114009T>C
-
-
FMO3_000063
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/-, -/-, -/., ?/-
6
7
c.855C>T
-
r.(=), r.(?)
p.(=), p.(Asn285=)
-
benign, likely pathogenic, VUS
g.171083174C>T
g.171114034C>T
21375C>T (Asn285Asn), Asn285Asn, FMO3(NM_001002294.3):c.855C>T (p.N285=)
-
FMO3_000093
VKGL data sharing initiative Nederland
PubMed: Ferreira 2013
,
PubMed: Koukouritaki et al. 2005
-
rs909530
CLASSIFICATION record, Germline
no
HapMap 0.279 (Eur), 0.407 (Jpn), 0.540 (Afr)
-
-
-
Johan den Dunnen
,
Ian Phillips
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
+/+, +/.
4
7
c.913G>T
-
r.(?)
p.(Glu305*), p.(Glu305Ter), p.Glu305*
-
NA, pathogenic, pathogenic (recessive)
g.171083232G>T
g.171114092G>T
g.21429G>T
-
FMO3_000010
abolishes activity, VKGL data sharing initiative Nederland,
2 more items
PubMed: Mayatepek 2004
,
PubMed: Treacy 1998
,
PubMed: Akerman 1999
,
1 more item
-
rs61753344
CLASSIFICATION record, Germline, In vitro (cloned)
-, yes
1/320 chromosomes
-
-
-
Ornicha Prapapan
,
VKGL-NL_Nijmegen
+?/-
1
7
c.919A>C
-
r.(?)
p.(Thr307Pro )
-
likely pathogenic
g.171083238A>C
g.171114098A>C
Thr307Pro
-
FMO3_000112
not in 200 control chromosomes
PubMed: Ferreira 2013
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/-, -/-, ?/., ?/?
12
7
c.923A>G
-
r.(?)
p.(Glu308Gly), p.Glu308Gly
-
benign, likely pathogenic, NA, VUS
g.171083242A>G
g.171114102A>G
g.21443A>G, Glu308Gly
-
FMO3_000083
caffeine and clozapine: no effect on metabolism, not in 200 control chromosomes,
5 more items
PubMed: Soderberg 2012
,
PubMed: Ferreira 2013
,
PubMed: Sachse 1999
,
PubMed: Shimizu 2012
,
3 more items
-
rs2266780
,
rs3832024
CLASSIFICATION record, Germline, In vitro (cloned)
-, yes
-
-
-
-
Johan den Dunnen
,
Ornicha Prapapan
,
VKGL-NL_Nijmegen
+?/.
1
7
c.929C>T
-
r.(?)
p.(Ser310Leu)
-
likely pathogenic (recessive)
g.171083248C>T
g.171114108C>T
Ser310Leu
-
FMO3_000113
not in 200 control chromosomes
PubMed: Ferreira 2013
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/+
1
7
c.940G>T
-
r.(?)
p.(Glu314*)
-
pathogenic (recessive)
g.171083259G>T
g.171114119G>T
g.21460G>T
-
FMO3_000107
Rare variant. 1 German/Russian het, compound with P153L
PubMed: Akerman et al. 1999
-
rs72549330
Germline
yes
0/60 chromosomes
-
-
-
Ornicha Prapapan
+/+, -?/.
4
7
c.1079T>C
-
r.(?)
p.(Leu360Pro), p.Leu360Pro
-
likely benign, NA, pathogenic (recessive)
g.171083398T>C
g.171114258T>C
g.21599T>C
-
FMO3_000043
expected to increase rate of metabolism of N- and S-oxygenation of drug substrates of FMO3,
3 more items
PubMed: Furnes 2003
,
PubMed: Lattard 2003
,
PubMed: Furnes et al. 2003
,
PubMed: Lattard et al. 2003
-
rs28363581
CLASSIFICATION record, Germline, In vitro (cloned), SUMMARY record
-, no
-
-
-
-
Ornicha Prapapan
,
VKGL-NL_Nijmegen
?/., ?/?
2
7
c.1084G>C
-
r.(?)
p.(Glu362Gln)
-
VUS
g.171083403G>C
g.171114263G>C
g.21604G>C
-
FMO3_000039
VKGL data sharing initiative Nederland,
1 more item
PubMed: Cashman et al. 2002
,
PubMed: Furnes et al. 2003
,
-
rs2066532
CLASSIFICATION record, Germline
no
-
-
-
-
Ornicha Prapapan
,
VKGL-NL_Nijmegen
+?/-
1
7
c.(1118dup)
-
r.(?)
p.(Ser374Valfs*10)
-
likely pathogenic
g.171083437dup
g.171114297dup
Gln373GlnfsX11
-
FMO3_000114
not in 200 control chromosomes
PubMed: Ferreira 2013
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1154A>C
-
r.(?)
p.(Gln385Pro)
-
VUS
g.171083473A>C
-
-
-
FMO3_000122
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.1159C>T
-
r.(?)
p.(Arg387Cys)
-
VUS
g.171083478C>T
g.171114338C>T
-
-
FMO3_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+
1
7
c.1160G>T
-
r.(?)
p.(Arg387Leu)
-
pathogenic (recessive)
g.171083479G>T
g.171114339G>T
g.21680G>T
-
FMO3_000025
Rare variant. 1 homozygous Metis proband
PubMed: Akerman et al. 1999
-
rs72549331
Germline
yes
0/60 chromosomes
-
-
-
Ornicha Prapapan
+?/.
1
7
c.1163G>T
-
r.(?)
p.(Trp388Leu)
-
likely pathogenic (recessive)
g.171083482G>T
g.171114342G>T
Trp388Leu
-
FMO3_000069
-
PubMed: Ferreira 2013
-
rs199975586
Germline
-
-
-
-
-
Johan den Dunnen
+/+
2
7
c.1164G>A
-
r.(?)
p.(Trp388*), p.Trp388*
-
NA, pathogenic (recessive)
g.171083483G>A
g.171114343G>A
g.21684G>A
-
FMO3_000026
abolishes activity for TMA, Rare variant. Truncated protein. Causative of TMAU
PubMed: Shimizu 2007
-
rs72549325
Germline, In vitro (cloned)
-, yes
0/100 chromosomes
-
-
-
Ornicha Prapapan
+/+
2
7
c.1184del
-
r.(?)
p.(Gly395Glufs*11)
-
pathogenic (recessive)
g.171085348del
g.171116208del
c.1182delG; g.21702delG; M405fsX
-
FMO3_000038
Expected to affect metabolism of drug substrates of FMO3,
1 more item
PubMed: Teresa et al. 2006
-
rs61757397
Germline, SUMMARY record
-, yes
-
-
-
-
Ornicha Prapapan
+/+
2
8
c.1247_1248delinsT
-
r.(?)
p.(Lys416Ilefs*72)
-
pathogenic (recessive)
g.171085411_171085412delinsT
g.171116271_171116272delinsT
g.23612-23613AG>T; c.AG1246T
-
FMO3_000090
Expected to affect metabolism of drug substrates of FMO3,
1 more item
PubMed: Motika et al. 2009
-
rs144935285
Germline, SUMMARY record
-, yes
-
-
-
-
Ian Phillips
,
Ornicha Prapapan
-/-, -?/-?
3
8
c.1248G>T
-
r.(?)
p.(Lys416Asn), p.Lys416Asn
-
benign, likely benign, NA
g.171085412G>T
g.171116272G>T
g.23613G>T
-
FMO3_000032
possible limited substrate-dependent effect on metabolism of drug substrates of FMO3,
2 more items
PubMed: Koukouritaki 2005
,
PubMed: Koukouritaki 2007
,
1 more item
-
-
Germline, In vitro (cloned), SUMMARY record
-, no
-
-
-
-
Ornicha Prapapan
?/?
2
8
c.1250G>T
-
r.(?)
p.(Arg417Leu)
-
VUS
g.171085414G>T
g.171116274G>T
Arg417Leu
-
FMO3_000115
not in 200 control chromosomes
PubMed: Ferreira 2013
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/+
4
9
c.1262G>T
-
r.(?)
p.(Gly421Val), p.Gly421Val
-
NA, pathogenic (recessive)
g.171086245G>T
g.171117105G>T
g.30162G>T (Gly421Val)
-
FMO3_000013
expected to affect N-oxygenation of drug substrates of FMO3,
1 more item
PubMed: Shimizu 2012
-
rs61757397
Germline, In vitro (cloned), SUMMARY record
-, yes
2/1280 chromosomes
-
-
-
Ornicha Prapapan
?/?
2
9
c.1282A>T
-
r.(?)
p.(Thr428Ser)
-
VUS
g.171086265A>T
g.171117125A>T
Thr428Ser
-
FMO3_000080
not in 200 control chromosomes
PubMed: Ferreira 2013
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/+
3
9
c.1302G>A
-
r.(?)
p.(Met434Ile), p.Met434Ile
-
NA, pathogenic (recessive)
g.171086285G>A
g.171117145G>A
g.24486G>A
-
FMO3_000024
abolishes activity for TMA and methimazole, Rare variant. 1 het proband compound with R492W,
1 more item
PubMed: Dolphin 2000
,
PubMed: Dolphin et al. 2000
-
rs72549330
,
rs72549332
Germline, In vitro (cloned), SUMMARY record
-, yes
0/74 chromosomes
-
-
-
Ornicha Prapapan
+/+
1
9
c.(1309_1596del)
-
r.(?)
p.Leu437*
-
NA
g.171086292_171086579del
g.171117152_171117439del
-
-
FMO3_000000
cDNA expression cloning in E.coli shows no N-oxygenation activity
PubMed: Yamazaki 2007
-
-
In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
+/+
2
9
c.1322T>C
-
r.(?)
p.(Ile441Thr)
-
pathogenic (recessive)
g.171086305T>C
g.171117165T>C
g.30222T>C (Ile441Thr)
-
FMO3_000081
Expected to affect N-oxygenation of drug substrates of FMO3
PubMed: Shimizu 2012
-
-
Germline, SUMMARY record
-, yes
1/1280 chromosomes
-
-
-
Ornicha Prapapan
+?/.
1
-
c.1394C>T
-
r.(?)
p.(Pro465Leu)
-
likely pathogenic
g.171086377C>T
-
-
-
FMO3_000121
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+
1
9
c.(1399_1596del)
-
r.(?)
p.Ser467*
-
NA
g.171086382_171086579del
g.171117242_171117439del
-
-
FMO3_000000
cDNA expression cloning in E.coli shows no N-oxygenation activity
PubMed: Yamazaki 2007
-
-
In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
+/+
1
9
c.1408C>T
-
r.(?)
p.(Gln470*)
-
pathogenic (recessive)
g.171086391C>T
g.171117251C>T
g.30308C>T, g.24592C>T
-
FMO3_000028
Rare variant. Truncated protein. 1 het Japanese, compound het with E158K-E308G
PubMed: Shimizu et al. 2007
-
-
Germline
yes
0/100 chromosomes
-
-
-
Ornicha Prapapan
+?/+?
1
9
c.1424G>A
-
r.(?)
p.(Gly475Asp)
-
likely pathogenic (recessive)
g.171086407G>A
g.171117267G>A
g.24608G>A
-
FMO3_000015
Rare variant. 2 proband hets, one compound with p.Arg238Pro. Probably causative of TMAU.
PubMed: Zschocke et al. 1999
,
PubMed: Teresa et al. 2006
-
rs72549333
Germline
yes
0/200 chromosomes
-
-
-
Ornicha Prapapan
?/.
1
-
c.1435T>C
-
r.(?)
p.(Trp479Arg)
-
VUS
g.171086418T>C
g.171117278T>C
-
-
FMO3_000117
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/+?
3
9
c.1462A>G
-
r.(?)
p.(Thr488Ala), p.Thr488Ala
-
likely pathogenic (recessive), NA
g.171086445A>G
g.171117305A>G
-
-
FMO3_000106
expected to have moderate effect on N-oxygenation of drug substrates of FMO3,
1 more item
PubMed: Shimizu 2012
-
-
Germline, In vitro (cloned), SUMMARY record
-, ?
2/1280 chromosomes
-
-
-
Ornicha Prapapan
+/+
3
9
c.1474C>T
-
r.(?)
p.(Arg492Trp), p.Arg492Trp
-
NA, pathogenic (recessive)
g.171086457C>T
g.171117317C>T
g.24658C>T
-
FMO3_000011
abolishes activity for TMA and methimazole,
2 more items
PubMed: Akerman 1999
,
PubMed: Akerman 1999
,
PubMed: Dolphin 2000
,
1 more item
-
rs72549334
Germline, In vitro (cloned), SUMMARY record
-, yes
0/394 chromosomes
-
-
-
Ornicha Prapapan
-?/.
1
-
c.1479G>A
-
r.(?)
p.(Ser493=)
-
likely benign
g.171086462G>A
g.171117322G>A
-
-
FMO3_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/+
9
9
c.1498C>T
-
r.(?)
p.(Arg500*), p.Arg500*
-
NA, pathogenic (recessive)
g.171086481C>T
g.171117341C>T
Arg500stop, g.24682C>T, g.30398 C>T, g.30398C>T
-
FMO3_000016
abolishes activity for TMA and 5-DPT,
2 more items
PubMed: Shimizu 2006
,
PubMed: Shimizu 2012
,
PubMed: Yamazaki 2007
-
-
Germline, In vitro (cloned), SUMMARY record
-, yes
-
-
-
-
Ornicha Prapapan
+?/.
1
-
c.1499G>A
-
r.(?)
p.(Arg500Gln)
-
likely pathogenic
g.171086482G>A
g.171117342G>A
-
-
FMO3_000119
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/?
1
9
c.1507G>A
-
r.(?)
p.(Gly503Arg)
-
VUS
g.171086490G>A
g.171117350G>A
G1507A, g.24691G>C
-
FMO3_000045
-
PubMed: Furnes et al. 2003
-
rs72549335
Germline
?
1/100 chromosomes (African American).
-
-
-
Ornicha Prapapan
+/+
1
9
c.(1529_1597del)
-
r.(?)
p.Phe510*
-
NA
g.171086512_171086580del
g.171117372_171117440del
-
-
FMO3_000000
cDNA expression cloning in E.coli shows 0.01 N-oxygenation activity
PubMed: Yamazaki 2007
-
-
In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
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