GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LDLRAP1 R9Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01669-DNA_B05 from PGP sample 86486261
LDLRAP1 E44Ginsufficiently evaluated noneunknown

(2 web hits)

LDLRAP1 T77Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
LDLRAP1 S202Pinsufficiently evaluated none, f=0.469unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
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 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
LDLRAP1 T218Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
LDLRAP1 R238Winsufficiently evaluated pathogenic, f=0.035recessive

This variant was seen in a homozygous fashion in siblings with familial hypercholesterolemia who also had a frameshift mutation in the same gene. Hubacek et al. studied the frequency of this variant in high and low cholesterol groups and conclude that this variant has little effect, if any, on cholesterol levels.

CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
LDLRAP1 S243Tinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A01_200_37
LDLRAP1 A284Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
Total results: 8

Gene search

"GENE" or "GENE A123C":

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