GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
FAH N16Iinsufficiently evaluated pathogenicunknown

(23 web hits)

FAH A134Dinsufficiently evaluated pathogenicunknown

(14 web hits)

FAH V206Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
FAH P261Linsufficiently evaluated not reviewed, f=0.000unknown

(16 web hits)

FAH W262Xinsufficiently evaluated pathogenicunknown

(57 web hits)

FAH Q279Rinsufficiently evaluated pathogenicunknown

(44 web hits)

FAH E337Sinsufficiently evaluated pathogenicunknown
FAH R341Wuncertain benign, f=0.017recessive

This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022.

(18 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FAH E357Xinsufficiently evaluated pathogenicunknown

(14 web hits)

FAH E364Xinsufficiently evaluated pathogenic, f=0.000unknown

(12 web hits)

FAH R381Ginsufficiently evaluated pathogenicunknown

(1 web hit)

FAH I403Minsufficiently evaluated not reviewedunknown
FAHD1 D110Ninsufficiently evaluated none, f=0.111unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FAHD2A R104Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
FAHD2A R104Winsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
FAHD2B R33Winsufficiently evaluated not reviewed, f=0.076unknown var-GS12004-1100-36-ASM
FAHD2B G50Rinsufficiently evaluated not reviewed, f=0.001unknown hu232307 build 36 substitution variants
FAHD2B V52Iinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
FAHD2B R200Cinsufficiently evaluated none, f=0.000unknown
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Total results: 19

Gene search

"GENE" or "GENE A123C":

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