PTEN c.499del ;(p.T167Lfs*16)

Variant ID: 10-89711879-TA-T

NM_000314.4(PTEN):c.499del;(p.T167Lfs*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:

New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuroma.

Bmc Ophthalmology
Jiang, Zhaoxin Z; Zhang, Ting T; Chen, Chonglin C; Sun, Limei L; Li, Songshan S; Ding, Xiaoyan X
Publication Date: 2020-12-11

Variant appearance in text: PTEN: 498delA
PubMed Link: 33308182
Variant Present in the following documents:
  • Main text
  • 12886_2020_Article_1760.pdf
View BVdb publication page