GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
THBD A25Tinsufficiently evaluated pathogenicunknown

(4 web hits)

THBD A43Tpathogenic, f=0.004dominant

Reported to cause familial hemolytic-uremic syndrome in a dominant manner, a potentially lethal illness in children. If true, penetrance is not 100%, but some family history of the illness might be expected.

(6 web hits)

hu34D5B9 exome (hom)
var-GS07357-1100-36-ASM
THBD D53Ginsufficiently evaluated pathogenicunknown

(6 web hits)

THBD P217Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
THBD D468Yinsufficiently evaluated pathogenicunknown
THBD A473Vuncertain benign, f=0.140unknown

While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.

(4 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM (hom)
hu232307 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
THBD P495Spathogenic, f=0.001dominant

Reported to cause familial hemolytic-uremic syndrome in a dominant manner, a potentially lethal illness in children. If true, penetrance is not 100%, but some family history of the illness might be expected.

(7 web hits)

THBD P501Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
THBD G502Rinsufficiently evaluated none, f=0.007unknown var-GS18517-1100-36-ASM
THBD T506Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
Total results: 10

Gene search

"GENE" or "GENE A123C":

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