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rs137852884(A;G)

From SNPedia
(Redirected from I5005419(A;G))
Carrier of a mucolipidosis III gamma mutation
Is agenotype
ofrs137852884
GeneGNPTG
Chromosome16
Position1,362,053
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 6.1 Mucolipidosis III gamma
(A;G) 3 Carrier of a mucolipidosis III gamma mutation
(G;G) 0 common in clinvar

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