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.
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
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
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%)

 Effect
|

 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 |
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 |
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 |
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 |
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 |
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 |
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 |
+/+ |
_1_2i |
c.-421_133-993del |
- |
r.? |
p.? |
- |
pathogenic (recessive) |
g.171059708_171071933del |
g.171090567_171102792del |
g.-2092 to 10145del |
- |
FMO3_000091 |
12226-bp deletion including exons 1 and 2 and the translational start codon. One homozygous proband of Greek ancestry. |
PubMed: Forrest et al. 2006 |
- |
- |
Germline |
yes |
- |
- |
- |
- |
Ian Phillips |
+/+ |
_1_2i |
c.-421_133-993del |
- |
r.(?) |
p.? |
- |
pathogenic (recessive) |
g.171059708_171071933del |
g.171090567_171102792del |
- |
- |
FMO3_000091 |
Expected to affect metabolism of drug substrates of FMO3 |
- |
- |
- |
SUMMARY record |
- |
- |
- |
- |
- |
Ian Phillips |
?/? |
_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 |
c.72G>T |
- |
r.(?) |
p.(Glu24Asp) |
- |
benign |
g.171061871G>T |
g.171092730G>T |
g.72G>T |
- |
FMO3_000034 |
- |
PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007 |
- |
- |
Germline |
no |
2/400 chromosomes (non-Latino white), 0/404 (Hispanic American), 0/402 (African American) |
- |
- |
- |
Ornicha Prapapan |
?/? |
2 |
c.72G>T |
- |
r.(?) |
p.Glu24Asp |
- |
NA |
g.171061871G>T |
g.171092730G>T |
- |
- |
FMO3_000034 |
small increase in kcat/Km for TMA and methimazole; no effect for sulindac or ethylenethiourea |
PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
2 |
c.94G>A |
- |
r.(?) |
p.(Glu32Lys) |
- |
pathogenic (recessive) |
g.171061893G>A |
g.171092752G>A |
g.94G>A |
- |
FMO3_000003 |
rare variant. Het in 1 individual |
PubMed: Zhang et al. 2003 |
- |
rs72549320 |
Germline |
yes |
0/98 chromosomes |
- |
- |
- |
Ornicha Prapapan |
+/+ |
2 |
c.94G>A |
- |
r.(?) |
p.Glu32Lys |
- |
NA |
g.171061893G>A |
g.171092752G>A |
- |
- |
FMO3_000003 |
Variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation. |
PubMed: Zhang 2003 |
- |
rs72549320 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
2 |
c.94G>A |
- |
r.(?) |
p.(Glu32Lys) |
- |
NA |
g.171061893G>A |
g.171092752G>A |
- |
- |
FMO3_000003 |
abolishes enzyme activity for TMA and for methimazole and 5-DPT |
PubMed: Zhang 2003 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
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 |
+?/. |
7 |
c.112G>T |
- |
r.(?) |
p.(Gly38Trp) |
- |
likely pathogenic (recessive) |
g.171061911G>T |
g.171092770G>T |
Gly38Trp |
- |
FMO3_000104 |
- |
PubMed: Ferreira 2013 |
- |
rs199975586 |
Germline |
? |
- |
- |
- |
- |
Ornicha Prapapan |
+?/. |
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 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/. |
- |
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 |
-/- |
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 |
+/+ |
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 |
+/+ |
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 |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
- |
pathogenic (recessive) |
g.171072965G>A |
g.171103824G>A |
g.11166G>A |
- |
FMO3_000007 |
1 Thai; impaired TMA N-oxygenation capacity |
PubMed: Kubota 2002 |
- |
rs144935285 |
Germline |
yes |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.Val58Ile |
- |
NA |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
Vmax/Km for TMA 79% decreased |
PubMed: Kubota 2002 |
- |
rs72549332 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.Val58Ile |
- |
NA |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.72) and benzydamine (0.46) |
PubMed: Shimizu 2012 |
- |
rs72549332 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
- |
pathogenic (recessive) |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation |
- |
- |
- |
SUMMARY record |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
- |
pathogenic (recessive) |
g.171072965G>A |
g.171103824G>A |
g.16882G>A |
- |
FMO3_000007 |
- |
PubMed: Shimizu 2012 |
- |
rs144935285 |
Germline |
yes |
6/1280 chromosomes |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
- |
pathogenic (recessive) |
g.171072965G>A |
g.171103824G>A |
g.16882G>A |
- |
FMO3_000007 |
- |
PubMed: Shimizu 2012 |
- |
rs144935285 |
Germline |
yes |
6/1280 chromosomes |
- |
- |
- |
Ornicha Prapapan |
?/. |
- |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
- |
VUS |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
16 heterozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs144935285 |
Germline |
- |
16/2795 individuals |
- |
- |
- |
Mohammed Faruq |
?/. |
- |
c.172G>A |
- |
r.(?) |
p.(Val58Ile) |
- |
VUS |
g.171072965G>A |
g.171103824G>A |
- |
- |
FMO3_000007 |
1 homozygous; Clinindb (India) |
PubMed: Narang 2020, Journal: Narang 2020 |
- |
rs144935285 |
Germline |
- |
1/2795 individuals |
- |
- |
- |
Mohammed Faruq |
+/+ |
3 |
c.182A>G |
- |
r.(?) |
p.(Asn61Ser) |
- |
pathogenic (recessive) |
g.171072975A>G |
g.171103834A>G |
g.11177A>G |
- |
FMO3_000002 |
Rare variant. 2 patients compound hets with P153L |
PubMed: Dolphin et al. 2000 |
- |
rs72549322 |
Germline |
yes |
0/118 chromosomes |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.182A>G |
- |
r.(?) |
p.Asn61Ser |
- |
NA |
g.171072975A>G |
g.171103834A>G |
- |
- |
FMO3_000002 |
abolishes N-oxygenation of TMA, but no effect on S-oxygenation of methimazole |
PubMed: Dolphin 2000 |
- |
rs72549331 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.182A>G |
- |
r.(?) |
p.(Asn61Ser) |
- |
pathogenic (recessive) |
g.171072975A>G |
g.171103834A>G |
- |
- |
FMO3_000002 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation, but not those that undergo S-oxygenation |
- |
- |
rs72549331 |
SUMMARY record |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.183C>A |
- |
r.(?) |
p.(Asn61Lys) |
- |
pathogenic (recessive) |
g.171072976C>A |
g.171103835C>A |
g.11177C>A |
- |
FMO3_000035 |
Low-frequency polymorphic variant (0.052 in white, 0.035 in African-Americans) that severely reduces activity. Expected to cause TMAU, but not reported in patients. |
PubMed: Koukouritaki et al. 2005, PubMed: Koukouritaki et al. 2007 |
- |
- |
Germline |
? |
see Remarks |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.183C>A |
- |
r.(?) |
p.Asn61Lys |
- |
NA |
g.171072976C>A |
g.171103835C>A |
- |
- |
FMO3_000035 |
bbolishes activity for TMA and ethylenethiourea, severely reduces activity for methimazole and sulindac |
PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.183C>A |
- |
r.(?) |
p.(Asn61Lys) |
- |
pathogenic (recessive) |
g.171072976C>A |
g.171103835C>A |
- |
- |
FMO3_000035 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation |
- |
- |
- |
SUMMARY record |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.192del |
- |
r.(?) |
p.(Glu65Argfs*2) |
- |
pathogenic (recessive) |
g.171072985del |
g.171103844del |
A191 deletion; g.11185delA |
- |
FMO3_000036 |
Also known as M66X and K64Rfs. Truncated protein.
Rare variant, 1 individual, compound het with P153L |
PubMed: Zhang et al. 2003 |
- |
- |
Germline |
yes |
0/174 Chromosomes |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.192del |
- |
r.(?) |
p.(Glu65Argfs*2) |
- |
pathogenic (recessive) |
g.171072985del |
g.171103844del |
- |
- |
FMO3_000036 |
Expected to affect metabolism of drug substrates of FMO3 |
- |
- |
- |
SUMMARY record |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.198G>T |
- |
r.(?) |
p.(Met66Ile) |
- |
pathogenic (recessive) |
g.171072991G>T |
g.171103850G>T |
g.11192G>T |
- |
FMO3_000012 |
Rare variant. 2 probands of Irish origin. |
PubMed: Akerman et al. 1999, PubMed: Treacy et al. 1998 |
- |
rs72549323 |
Germline |
yes |
0/360 |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.198G>T |
- |
r.(?) |
p.Met66Ile |
- |
NA |
g.171072991G>T |
g.171103850G>T |
- |
- |
FMO3_000012 |
abolishes activity for TMA |
PubMed: Treacy 1998,PubMed: Akerman 1999 |
- |
rs72549323 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.198G>T |
- |
r.(?) |
p.(Met66Ile) |
- |
pathogenic (recessive) |
g.171072991G>T |
g.171103850G>T |
- |
- |
FMO3_000012 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation |
- |
- |
rs72549323 |
SUMMARY record |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.209C>T |
- |
r.(?) |
p.(Pro70Leu) |
- |
pathogenic (recessive) |
g.171073002C>T |
g.171103861C>T |
g.16919C>T |
- |
FMO3_000014 |
- |
PubMed: Shimizu 2012 |
- |
- |
Germline |
yes |
2/1280 chromosomes |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.209C>T |
- |
r.(?) |
p.Pro70Leu |
- |
NA |
g.171073002C>T |
g.171103861C>T |
- |
- |
FMO3_000014 |
cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.55) and benzydamine (0.46) |
PubMed: Shimizu 2012 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.209C>T |
- |
r.(?) |
p.(Pro70Leu) |
- |
pathogenic (recessive) |
g.171073002C>T |
g.171103861C>T |
- |
- |
FMO3_000014 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation |
- |
- |
- |
SUMMARY record |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.209C>T |
- |
r.(?) |
p.(Pro70Leu) |
- |
pathogenic (recessive) |
g.171073002C>T |
g.171103861C>T |
g.16919C>T |
- |
FMO3_000014 |
- |
PubMed: Shimizu 2012 |
- |
- |
Germline |
yes |
2/1280 chromosomes |
- |
- |
- |
Ornicha Prapapan |
+/. |
3 |
c.209C>T |
- |
r.(?) |
p.(Pro70Leu) |
- |
pathogenic (recessive) |
g.171073002C>T |
g.171103861C>T |
- |
- |
FMO3_000014 |
- |
PubMed: Fujieda 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/+ |
3 |
c.245T>C |
- |
r.(?) |
p.(Met82Thr) |
- |
pathogenic (recessive) |
g.171073038T>C |
g.171103897T>C |
g.11239T>C |
- |
FMO3_000019 |
Rare variant. 1 homozygous proband. Filipino mother, father not known |
PubMed: Murphy et al. 2000 |
- |
rs72549324 |
Germline |
yes |
0/50 chromosomes |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.245T>C |
- |
r.(?) |
p.Met82Thr |
- |
NA |
g.171073038T>C |
g.171103897T>C |
- |
- |
FMO3_000019 |
abolishes activity for TMA and methimazole |
PubMed: Murphy 2000 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
3 |
c.245T>C |
- |
r.(?) |
p.(Met82Thr) |
- |
pathogenic (recessive) |
g.171073038T>C |
g.171103897T>C |
- |
- |
FMO3_000019 |
expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S- oxygenation |
- |
- |
- |
SUMMARY record |
- |
- |
- |
- |
- |
Ornicha Prapapan |
-/- |
4 |
c.341A>G |
- |
r.(?) |
p.(Asn114Ser) |
- |
benign |
g.171076835A>G |
g.171107694A>G |
g.15036A>G |
- |
FMO3_000005 |
not causative of TMAU, no effect in vitro |
PubMed: Shimizu et al. 2007 |
- |
rs186763441 |
Germline |
no |
0/100 chromosomes |
- |
- |
- |
Ornicha Prapapan |
-/- |
4 |
c.341A>G |
- |
r.(?) |
p.(Asn114Ser) |
- |
benign |
g.171076835A>G |
g.171107694A>G |
- |
- |
FMO3_000005 |
- |
PubMed: Shimizu 2012 |
- |
rs186763441 |
Germline |
no |
1/1280 chromosomes |
- |
- |
- |
Ornicha Prapapan |
-?/. |
- |
c.341A>G |
- |
r.(?) |
p.(Asn114Ser) |
- |
likely benign |
g.171076835A>G |
g.171107694A>G |
- |
- |
FMO3_000005 |
classification based on frequency in 305 unrelated individuals |
PubMed: Le 2019 |
- |
- |
Germline |
- |
frequency 0.014 |
- |
- |
- |
Global Variome, with Curator vacancy |
+/+ |
4_9 |
c.[341A>G;1322T>C] |
- |
- |
p.[Asn114Ser;Ile441Thr] |
- |
NA |
g.[171076835A>G;171086305T>C] |
- |
- |
- |
FMO3_000000 |
cDNA expression cloning in E.coli showes lower Kcat/Km for N-oxygenation of trimethylamine (0.22) and benzydamine (0.16) |
PubMed: Shimizu 2012 |
- |
- |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+?/+? |
4 |
c.394G>C |
- |
r.(?) |
p.(Asp132His) |
- |
likely pathogenic (recessive) |
g.171076888G>C |
g.171107747G>C |
g.15089G>C |
- |
FMO3_000033 |
Population-specific polymorphic variant: African Americans (7/260 chromosomes), European Americans (0/240 chromosomes). dbSNP: 0/88 Asian chromosomes. Possibly causative of moderate TMAU; homozygotes excreted ~70% of TMA as TMA N-oxide |
PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003 |
- |
rs12072582 |
Germline |
? |
- |
- |
- |
- |
Ornicha Prapapan |
+?/+? |
4 |
c.394G>C |
- |
r.(?) |
p.Asp132His |
- |
NA |
g.171076888G>C |
g.171107747G>C |
- |
- |
FMO3_000033 |
substrate-dependent reduction in activity: 60% for TMA, 30% for methimazole and 6% for 5-DPT |
PubMed: Cashman 2003 |
- |
rs12072582 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+?/+? |
4 |
c.394G>C |
- |
r.(?) |
p.(Asp132His) |
- |
likely pathogenic (recessive) |
g.171076888G>C |
g.171107747G>C |
- |
- |
FMO3_000033 |
expected to have a moderate substrate-dependent effect on metabolism of drug substrates of FMO3 |
- |
- |
rs12072582 |
SUMMARY record |
- |
- |
- |
- |
- |
Ornicha Prapapan |
?/? |
4 |
c.428T>A |
- |
r.(?) |
p.(Val143Glu) |
- |
VUS |
g.171076922T>A |
g.171107781T>A |
g.15123T>A |
- |
FMO3_000020 |
Polymorphic variant (0.07 frequency). One proband, in cis with the common polymorphic variant p.Glu158Lys and compound het with p.Pro153Leu. |
PubMed: Basarab et al. 1999 |
- |
- |
Germline |
yes |
6/88 chromosomes |
- |
- |
- |
Ornicha Prapapan |
-/- |
4 |
c.441C>T |
- |
r.(=) |
p.(=) |
- |
benign |
g.171076935C>T |
g.171107794C>T |
15019A>C (S147S) |
- |
FMO3_000092 |
- |
PubMed: Koukouritaki et al. 2005 |
- |
rs1800822 |
Germline |
no |
HapMap 0.066 (Eur), 0.227 (Jpn), 0.031 (Afr) |
- |
- |
- |
Ian Phillips |
-/. |
- |
c.441C>T |
- |
r.(?) |
p.(Ser147=) |
- |
benign |
g.171076935C>T |
g.171107794C>T |
- |
- |
FMO3_000092 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Nijmegen |
+?/- |
4 |
c.441C>T |
- |
r.(?) |
p.(Ser147=) |
- |
likely pathogenic |
g.171076935C>T |
g.171107794C>T |
Ser147Ser |
- |
FMO3_000092 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.441C>T |
- |
r.(?) |
p.(Ser147=) |
- |
likely pathogenic |
g.171076935C>T |
g.171107794C>T |
Ser147Ser |
- |
FMO3_000092 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.441C>T |
- |
r.(?) |
p.(Ser147=) |
- |
likely pathogenic |
g.171076935C>T |
g.171107794C>T |
Ser147Ser |
- |
FMO3_000092 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
-/. |
- |
c.441C>T |
- |
r.(=) |
p.(=) |
- |
benign |
g.171076935C>T |
g.171107794C>T |
20852C>T |
- |
FMO3_000092 |
- |
PubMed: Fujieda 2003 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/+ |
4 |
c.442G>T |
- |
r.(?) |
p.(Gly148*) |
- |
pathogenic (recessive) |
g.171076936G>T |
g.171107795G>T |
g.15137G>T |
- |
FMO3_000006 |
Rare variant. 1/140 Korean chromosomes. Truncated protein. Expected to cause TMAU; het had low FMO3 activity as judged by low theobromine/caffeine ratio (0.64) |
PubMed: Park et al. 1999 |
- |
rs72549325 |
Germline |
? |
1/140 chromosomes |
- |
- |
- |
Ornicha Prapapan |
-/- |
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 |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.(Pro153Leu) |
- |
pathogenic (recessive) |
g.171076952C>T |
g.171107811C>T |
g.15153C>T |
- |
FMO3_000001 |
Rare variant. 14 probands of European origin |
PubMed: Dolphin et al. 1997, PubMed: Treacy et al. 1998 |
- |
rs72549326 |
Germline |
yes |
0/60 chromosomes |
- |
- |
- |
Ornicha Prapapan |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.Pro153Leu |
- |
NA |
g.171076952C>T |
g.171107811C>T |
- |
- |
FMO3_000001 |
variant expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N- or S-oxygenation; impaired benzydamine N-oxygenation in compound het with E305X or with S173R |
PubMed: Mayatepek 2004 |
- |
rs72549326 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.Pro153Leu |
- |
NA |
g.171076952C>T |
g.171107811C>T |
- |
- |
FMO3_000001 |
abolishes activity for TMA and methimazole |
PubMed: Treacy 1998, PubMed: Dolphin 1997 |
- |
rs72549326 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.(Pro153Leu) |
- |
pathogenic (recessive) |
g.171076952C>T |
g.171107811C>T |
Pro153Leu |
- |
FMO3_000001 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/+ |
4 |
c.458C>T |
- |
r.(?) |
p.(Pro153Leu) |
- |
pathogenic (recessive) |
g.171076952C>T |
g.171107811C>T |
Pro153Leu |
- |
FMO3_000001 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+/. |
- |
c.458C>T |
- |
r.(?) |
p.(Pro153Leu) |
- |
pathogenic |
g.171076952C>T |
- |
- |
- |
FMO3_000001 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Nijmegen |
-/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
benign |
g.171076966G>A |
g.171107825G>A |
g.15167G>A |
- |
FMO3_000008 |
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 |
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 |
- |
rs2266782 |
Germline |
no |
- |
- |
- |
- |
Ornicha Prapapan |
+?/? |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Elizabeth A. Shephard |
-/- |
4 |
c.472G>A |
- |
r.(?) |
p.Glu158Lys |
- |
NA |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
caffeine and clozapine: no effect on metabolism |
PubMed: Sachse 1999 |
- |
rs2266782 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
-/- |
4 |
c.472G>A |
- |
r.(?) |
p.Glu158Lys |
- |
NA |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
Sulindac: patients homozygous for E158K exhibit enhanced polyp regression in response to treatment |
PubMed: Sachse 1999, PubMed: Hisamuddin 2004, PubMed: Hisamuddin 2005, PubMed: Soderberg 2012 |
- |
rs2266782 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
-/- |
4 |
c.472G>A |
- |
r.(?) |
p.Glu158Lys |
- |
NA |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
Olanzapine: homozygotes for E158K and E308G have lower N-oxide serum concentrations |
PubMed: Soderberg 2012 |
- |
rs2266782 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
?/? |
4 |
c.472G>A |
- |
r.(?) |
p.Glu158Lys |
- |
NA |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
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). |
PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999 |
- |
rs72549321 |
In vitro (cloned) |
- |
- |
- |
- |
- |
Ornicha Prapapan |
?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
VUS |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
- |
PubMed: Shimizu 2012 |
- |
rs2266782 |
Germline |
yes |
- |
- |
- |
- |
Ornicha Prapapan |
-/. |
- |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
benign |
g.171076966G>A |
g.171107825G>A |
FMO3(NM_001002294.3):c.472G>A (p.E158K) |
- |
FMO3_000008 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Groningen |
-/. |
- |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
benign |
g.171076966G>A |
g.171107825G>A |
FMO3(NM_001002294.3):c.472G>A (p.E158K) |
- |
FMO3_000008 |
VKGL data sharing initiative Nederland |
- |
- |
- |
CLASSIFICATION record |
- |
- |
- |
- |
- |
VKGL-NL_Nijmegen |
+?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
- |
- |
FMO3_000008 |
- |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/. |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic (recessive) |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
+?/- |
4 |
c.472G>A |
- |
r.(?) |
p.(Glu158Lys) |
- |
likely pathogenic |
g.171076966G>A |
g.171107825G>A |
Glu158Lys |
- |
FMO3_000008 |
not in 200 control chromosomes |
PubMed: Ferreira 2013 |
- |
- |
Germline |
- |
- |
- |
- |
- |
Johan den Dunnen |
-/. |
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 |
-/. |
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 |
+/+ |
5 |
c.517A>C |
- |
r.(?) |
p.(Ser173Arg) |
- |
pathogenic (recessive) |
g.171077252A>C |
g.171108111A>C |
S173R |
- |
FMO3_000102 |
One proband, compound het with P153L. DNA change was not reported so could be c.517A>C or c.519C>G. |
PubMed: Mayatepek et al. 2004 |
- |
- |
Germline |
? |
- |
- |
- |
- |
Elizabeth A. Shephard |