PTEN c.871del ;(p.E291Kfs*16)

Variant ID: 10-89720720-AG-A

NM_000314.4(PTEN):c.871del;(p.E291Kfs*16)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.

Npj Genomic Medicine
Yehia, Lamis L; Ni, Ying Y; Sadler, Tammy T; Frazier, Thomas W TW; Eng, Charis C
Publication Date: 2022-03-03

Variant appearance in text: PTEN: Glu291Lysfs*16
PubMed Link: 35241692
Variant Present in the following documents:
  • 41525_2022_289_MOESM1_ESM.pdf
View BVdb publication page