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rs193302852(-;C)

From SNPedia
Carrier of a mucolipidosis III gamma mutation
Is agenotype
ofrs193302852
GeneGNPTG
Chromosome16
Position1,362,533
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 3 Carrier of a mucolipidosis III gamma mutation
(A;A) 0 common in clinvar
(C;C) 6.1 Mucolipidosis III gamma

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