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rs121909236(C;G)

From SNPedia
(Redirected from I6017195(C;G))
VATER association with macrocephaly and ventriculomegaly; PTEN syndrome?
Is agenotype
ofrs121909236
GenePTEN
Chromosome10
Position87,925,529
mentionedby
Magnitude3.9
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3.9 VATER association with macrocephaly and ventriculomegaly; PTEN syndrome?
(G;G) 6.6 Vater association with macrocephaly and ventriculomegaly; PTEN related disorder though?

Reported as recessive, yet in a gene with many dominant mutations leading to some similar phenotypes (PTEN hamartoma tumor syndrome); see ClinVar sidebar for more information or OMIM.