GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AMPD1 Q12Xuncertain pathogenic, f=0.093recessive

Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.

(84 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS06985-1100-36-ASM
AMPD1 Q45Xinsufficiently evaluated not reviewedunknown
AMPD1 P48Luncertain benign, f=0.094unknown

Probably benign, ancestral to15173240 pathogenic Q12X mutation.

(21 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS06985-1100-36-ASM
AMPD1 R75Hinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_C01_200_37
AMPD1 P77Linsufficiently evaluated not reviewedunknown
AMPD1 P81Linsufficiently evaluated not reviewedunknown
AMPD1 R104Hinsufficiently evaluated not reviewedunknown
AMPD1 R108Hinsufficiently evaluated not reviewedunknown
AMPD1 T111Ninsufficiently evaluated not reviewedunknown
AMPD1 K287Iinsufficiently evaluated not reviewed, f=0.024unknown

(3 web hits)

CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
AMPD1 K316Iinsufficiently evaluated not reviewedunknown
AMPD1 K320Iinsufficiently evaluated not reviewedunknown
AMPD1 R388Winsufficiently evaluated pathogenic, f=0.002unknown

(41 web hits)

AMPD1 R425Hinsufficiently evaluated pathogenicunknown

(43 web hits)

AMPD1 S524Tinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
AMPD1 S553Tinsufficiently evaluated not reviewedunknown
AMPD1 S557Tinsufficiently evaluated not reviewedunknown
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Total results: 17

Gene search

"GENE" or "GENE A123C":

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