GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DCTN1 G59Sinsufficiently evaluated pathogenicunknown

(53 web hits)

DCTN1 G71Rinsufficiently evaluated pathogenicunknown

(4 web hits)

DCTN1 Q74Pinsufficiently evaluated pathogenicunknown

(4 web hits)

DCTN1 P75Rinsufficiently evaluated not reviewedunknown
DCTN1 L153Minsufficiently evaluated noneunknown
DCTN1 P189Rinsufficiently evaluated not reviewedunknown
DCTN1 P209Rinsufficiently evaluated not reviewedunknown
DCTN1 L267Minsufficiently evaluated noneunknown
DCTN1 L287Minsufficiently evaluated none, f=0.047unknown var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
DCTN1 A318Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
DCTN1 A360Tinsufficiently evaluated not reviewedunknown
DCTN1 A474Tinsufficiently evaluated not reviewedunknown
DCTN1 A494Tinsufficiently evaluated not reviewed, f=0.000unknown
DCTN1 R495Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
DCTN1 M571Tinsufficiently evaluated pathogenicunknown

(15 web hits)

DCTN1 R785Winsufficiently evaluated pathogenic, f=0.001unknown

This variant is possibly associated with familial motor neuron disease, however there is only one linked publication which is from 2004 and which has not been reproduced since. M√ľnch C et al. note that while this variant was found in two brothers with probable ALS, the same variant was present in their asymptomatic mother and sister, which implies incomplete penetrance.

(15 web hits)

DCTN1 R915Qinsufficiently evaluated not reviewedunknown
DCTN1 R1012Qinsufficiently evaluated not reviewedunknown
DCTN1 R1029Qinsufficiently evaluated not reviewedunknown
DCTN1 R1042Qinsufficiently evaluated not reviewedunknown
DCTN1 M1047Iinsufficiently evaluated noneunknown
DCTN1 R1049Quncertain benign, f=0.001unknown

Although rare and predicted to have a damaging effect, Vilarino-Guell et al. find the variant did not segregate with neurological disease and conclude it is not deleterious.

(1 web hit)

CGI sample GS00253-DNA_C01_200_37
DCTN1 M1052Iinsufficiently evaluated noneunknown
DCTN1 R1101Kinsufficiently evaluated pathogenicunknown

(62 web hits)

DCTN1 I1104Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
DCTN1 M1144Iinsufficiently evaluated not reviewedunknown
DCTN1 M1161Iinsufficiently evaluated noneunknown
DCTN1 M1179Iinsufficiently evaluated not reviewedunknown
DCTN1 M1186Iinsufficiently evaluated none, f=0.000unknown CGI sample GS00253-DNA_D01_200_37
DCTN1 T1249Iinsufficiently evaluated pathogenic, f=0.003unknown

(17 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 27486199
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Total results: 30

Gene search

"GENE" or "GENE A123C":

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