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rs193302854(G;T)

From SNPedia
Carrier of a mucolipidosis III gamma mutation
Is agenotype
ofrs193302854
GeneGNPTG
Chromosome16
Position1,362,610
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 3 Likely miscall if from Ancestry data; otherwise, mucolipidosis mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a mucolipidosis III gamma mutation
(T;T) 6.1 Mucolipidosis III gamma

Unaffected in absence of a second mutation in the GNPTG gene; see ClinVar sidebar for links.