GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PRF1 R4Huncertain pathogenic, f=0.027dominant

This rare variant was reported seen in an individual with acquired aplastic anemia, but the frequency of this allele in controls indicates is no different from the cases, indicating this is likely a polymorphism without dramatic functional effect.

(11 web hits)

var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
PRF1 Q64Xinsufficiently evaluated pathogenicunknown

(2 web hits)

PRF1 A91Vuncertain pathogenic, f=0.033other

This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.

(199 web hits)

var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
PRF1 V183Ginsufficiently evaluated pathogenicunknown

(13 web hits)

PRF1 R225Winsufficiently evaluated pathogenicunknown

(15 web hits)

PRF1 N252Sinsufficiently evaluated pathogenic, f=0.008unknown

(111 web hits)

var-GS19238-1100-36-ASM
PRF1 C279Yinsufficiently evaluated pathogenicunknown

(6 web hits)

PRF1 P345Linsufficiently evaluated pathogenicunknown

(4 web hits)

PRF1 W374Xinsufficiently evaluated pathogenicunknown

(18 web hits)

PRF1 P382Sinsufficiently evaluated not reviewed, f=0.000unknown hu232307 build 36 substitution variants
PRF1 S388Iinsufficiently evaluated pathogenicunknown

(4 web hits)

PRF1 Q416Xinsufficiently evaluated pathogenicunknown

(2 web hits)

PRF1 G429Einsufficiently evaluated pathogenicunknown

(11 web hits)

PRF1 T435Minsufficiently evaluated pathogenic, f=0.000unknown

(15 web hits)

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Total results: 14

Gene search

"GENE" or "GENE A123C":

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