PTEN c.558G>A ;(p.L186=)

Variant ID: 10-89711940-G-A

NM_000314.4(PTEN):c.558G>A;(p.L186=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PTEN: L186L
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
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High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Pigment Cell & Melanoma Research
Masaki, Taro T; Wang, Yun Y; DiGiovanna, John J JJ; Khan, Sikandar G SG; Raffeld, Mark M; Beltaifa, Senda S; Hornyak, Thomas J TJ; Darling, Thomas N TN; Lee, Chyi-Chia R CC; Kraemer, Kenneth H KH
Publication Date: 2014-05

Variant appearance in text: PTEN: 558G>A
PubMed Link: 24483290
Variant Present in the following documents:
  • Main text
View BVdb publication page