PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Macrocephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729664
rs794729664
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0221355
Disease:
Macrocephaly 		0.010 GeneticVariation BEFREE Here, we report the identification of a novel homozygous variant in PTEN, NM_000314.4; c.545T>C; p.Leu182Ser, in two adolescent siblings with severe macrocephaly and mild intellectual disability. 26443266 2016