GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NTRK1 Q9Xinsufficiently evaluated pathogenicrecessive

This variant is found in cis with H598Y and G607V and they are found in a homozygous fashion in one Italian with congenital pain insensitivity. None of the mutations are found in 100 controls and authors presume that Q9X is the causative mutation.

(5 web hits)

NTRK1 R55Hinsufficiently evaluated noneunknown
NTRK1 R85Hinsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS18501-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
NTRK1 G192Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
NTRK1 T207Minsufficiently evaluated not reviewedunknown
NTRK1 G226Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
NTRK1 T237Minsufficiently evaluated not reviewed, f=0.017unknown hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
NTRK1 P302Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
NTRK1 Y359Cinsufficiently evaluated pathogenicunknown

(2 web hits)

NTRK1 P397Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
NTRK1 R408Qinsufficiently evaluated noneunknown

(1 web hit)

NTRK1 R438Qinsufficiently evaluated noneunknown
NTRK1 R444Qinsufficiently evaluated none, f=0.012unknown

(1 web hit)

var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
NTRK1 H568Yinsufficiently evaluated noneunknown
NTRK1 G571Rinsufficiently evaluated pathogenicunknown

(13 web hits)

NTRK1 G577Vinsufficiently evaluated noneunknown

(2 web hits)

NTRK1 M581Vinsufficiently evaluated pathogenicunknown

(16 web hits)

NTRK1 H598Yuncertain pathogenicrecessive

This variant is presumed benign. It was found in combination with a more serious upstream nonsense mutation (i.e. this variant was not even translated to protein) in a single case of congenital pain insensitivity — that other mutation was implicated in causing disease.

(7 web hits)

NTRK1 H604Yuncertain benign, f=0.043unknown

Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.

(8 web hits)

CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
NTRK1 Y604Hinsufficiently evaluated pathogenicunknown

(5 web hits)

NTRK1 G607Vinsufficiently evaluated benignrecessive

This variant is found in cis with Q9X and H598Y and they are found in a homozygous fashion in one Italian with congenital pain insensitivity. None of the mutations are found in 100 controls and authors presume that Q9X is the causative mutation.

(7 web hits)

NTRK1 G613Vuncertain benign, f=0.043unknown

Also called G607V, this variant has been reported as a nonpathogenic polymorphism.

(8 web hits)

CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
NTRK1 V613Ginsufficiently evaluated pathogenicunknown

Probably nonpathogenic polymorphism. The reference genome is G, so G613V is what is commonly reported.

(4 web hits)

NTRK1 P689Linsufficiently evaluated pathogenicunknown
NTRK1 A758Tinsufficiently evaluated not reviewed, f=0.006unknown var-GS19239-1100-36-ASM
NTRK1 R774Pinsufficiently evaluated pathogenicunknown

(5 web hits)

NTRK1 R780Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
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Total results: 27

Gene search

"GENE" or "GENE A123C":

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