chr10:89690828 G>A

Annotations

GenePTEN

TranscriptNM_000314.6

cDNAc.235G>A

Proteinp.A79T

Functionmissense

Localizationexon

hg19chr10:89690828 G>A

NM_001304717.2c.754G>Ap.A252T

NM_001304718.1c.-516G>A

MAX0.00010.0002

AFR00.00006557

AMR00

ASJ00.0001

EAS00

FIN00

NFE0.00010.0002

SAS–0.0002

RCV000626250.1Macrocephaly/autism syndromeVUS

RCV000409443.1Cowden syndrome 1VUS

RCV000129085.3Hereditary cancer-predisposing syndromeVUS

RCV000034594.1not providedVUS

RCV000123046.6PTEN hamartoma tumor syndromeVUS

CM022240Breast cancerDM