GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PRNP A19Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
PRNP Q21Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
PRNP P102Linsufficiently evaluated pathogenicunknown

(1620 web hits)

PRNP P105Linsufficiently evaluated pathogenicunknown

(252 web hits)

PRNP P105Sinsufficiently evaluated pathogenicunknown

(50 web hits)

PRNP P105Tinsufficiently evaluated pathogenicunknown

(22 web hits)

PRNP A117Vinsufficiently evaluated pathogenicunknown

(457 web hits)

PRNP G127Vinsufficiently evaluated noneunknown

Protective from kuru.

(144 web hits)

PRNP M129Minsufficiently evaluated nonerecessive

Genetic risk factor for variant Creutzfeld-Jakob disease.

(47 web hits)

PRNP M129Vuncertain protective, f=0.340other

This variant is associated with some protective effects for prion disease — individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.

(745 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
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-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
PRNP G131Vinsufficiently evaluated pathogenicunknown

(141 web hits)

PRNP A133Vinsufficiently evaluated pathogenicunknown

(8 web hits)

PRNP N171Sinsufficiently evaluated pathogenic, f=0.017unknown

(88 web hits)

PRNP D178Npathogenicdominant

Reported by ClinVar to cause Fatal familial insomnia and Jakob-Creutzfeldt disease (http://www.ncbi.nlm.nih.gov/clinvar/variation/13399/). In ClinVar, it is reported as ““pathogenic”“ by OMIM. OMIM’s submission refers to 13 publications related to this variant: https://www.ncbi.nlm.nih.gov/pubmed/1671983,1684756,1353341,1439789,1469441,1671440,9751723,7709737,1353342,19038218,12205650,16227536,1353344

Various publications report the variant in unrelated families. In addition, Goldfarb et al 1992 (https://www.ncbi.nlm.nih.gov/pubmed/1353341) reports that the position neighboring this genetic variant affects the presentation of disease; they report that Val129 is associated with FFI, while Met129 is associated with hereditary JCD.

PRNP V180Iinsufficiently evaluated pathogenicunknown

(252 web hits)

PRNP T183Ainsufficiently evaluated pathogenicunknown

(208 web hits)

PRNP H187Rinsufficiently evaluated pathogenicunknown

(183 web hits)

PRNP F198Sinsufficiently evaluated pathogenicunknown

(303 web hits)

PRNP E200Kinsufficiently evaluated pathogenicunknown

(1770 web hits)

PRNP R208Hinsufficiently evaluated pathogenic, f=0.000unknown

(216 web hits)

PRNP V210Iinsufficiently evaluated pathogenic, f=0.000unknown

(259 web hits)

PRNP Q217Rinsufficiently evaluated pathogenicunknown

(219 web hits)

PRNP E219Kuncertain protectiveother

Protection from sporadic Creutzfeldt-Jakob disease, possibly only in the heterozygous form.

(184 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
PRNP M232Rinsufficiently evaluated pathogenicunknown

(170 web hits)

PRNP R332Cinsufficiently evaluated not reviewedunknown var-GS19735-1100-36-ASM
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Total results: 25

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