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rs193302850(-;GACGCCTGCCGTT)

From SNPedia
Carrier of a mucolipidosis III gamma mutation
Is agenotype
ofrs193302850
GeneGNPTG
Chromosome16
Position1,362,099
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 6.1 Mucolipidosis III gamma
(-;GACGCCTGCCGTT) 3 Carrier of a mucolipidosis III gamma mutation
(GACGCCTGCCGTT;GACGCCTGCCGTT) 0 common in clinvar
(TGACGCCTGCCGT;TGACGCCTGCCGT) 0 common in clinvar

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