GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FMO3 E32Kinsufficiently evaluated pathogenicunknown

(14 web hits)

FMO3 A52Tinsufficiently evaluated pathogenicunknown

(18 web hits)

FMO3 N61Sinsufficiently evaluated pathogenicunknown

(27 web hits)

FMO3 M66Iinsufficiently evaluated pathogenicunknown

(39 web hits)

FMO3 D132Hinsufficiently evaluated none, f=0.014unknown

(14 web hits)

var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
FMO3 G148Xinsufficiently evaluated pathogenicunknown

(8 web hits)

FMO3 P153Llikely pathogenic, f=0.002recessive

Reported to cause trimethylaminuria, causing affected individuals to have a fishy body odor. Recorded by OMIM and GeneReviews, this comes from Dolphin et al 1997 (PMID: 9398858). According to OMIM, these authors found the variant in three different affected families.

(68 web hits)

FMO3 E158Kinsufficiently evaluated not reviewed, f=0.429unknown

(96 web hits)

CGI sample GS00253-DNA_E01_200_37
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FMO3 G180Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
FMO3 R205Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
FMO3 V257Muncertain benign, f=0.057unknown

This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism.

(71 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
FMO3 V277Ainsufficiently evaluated not reviewed, f=0.017unknown var-GS19025-1100-36-ASM
FMO3 E305Xinsufficiently evaluated pathogenic, f=0.001unknown

(51 web hits)

FMO3 E308Ginsufficiently evaluated not reviewed, f=0.137unknown

(90 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FMO3 E314Xinsufficiently evaluated pathogenicunknown

(18 web hits)

FMO3 R387Linsufficiently evaluated pathogenicunknown

(15 web hits)

FMO3 M434Iinsufficiently evaluated pathogenicunknown

(12 web hits)

FMO3 R492Wlikely pathogenic, f=0.000recessive

Reported by Akerman et al. 1999 to cause Trimethylaminuria in a recessive manner. The authors report seeing it once, compound heterozygous in a patient.

(42 web hits)

FMO3 S493Linsufficiently evaluated none, f=0.001unknown

(3 web hits)

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Total results: 19

Gene search

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