GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALOX12B V55Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
ALOX12B G94Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS18502-1100-36-ASM
ALOX12B P127Suncertain benign, f=0.017other

This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.

(1 web hit)

hu232307 build 36 substitution variants
CGI sample GS01173-DNA_F06 from PGP sample 64191565
ALOX12B L426Pinsufficiently evaluated pathogenicunknown

(3 web hits)

ALOX12B I516Tinsufficiently evaluated not reviewedunknown
ALOX12B H578Qinsufficiently evaluated pathogenicunknown

(3 web hits)

ALOX12B N670Yinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
Total results: 7

Gene search

"GENE" or "GENE A123C":

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