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rs386833967(-;AACA)

From SNPedia
Carrier of a mutation for neuronal ceroid-lipofuscinoses mutation
Is agenotype
ofrs386833967
GeneCLN5, FBXL3
Chromosome13
Position77,000,848
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;AACA) 3 Carrier of a mutation for neuronal ceroid-lipofuscinoses mutation
(AACA;AACA) 0 common in clinvar
(ACAA;ACAA) 0 common in clinvar
(D;I) If from Ancestry DNA, likely to be a miscall

Unaffected unless carrying another pathogenic CLN5 mutation; see rs386833967