PTEN c.190C>T ;(p.H64Y)

Variant ID: 10-89685295-C-T

NM_000314.4(PTEN):c.190C>T;(p.H64Y)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: PTEN: H64Y
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: PTEN: 190C>T
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: PTEN: 190C>T; His64Tyr; rs587781535
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PTEN: 190C>T; His64Tyr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Cervical small cell neuroendocrine tumor mutation profiles via whole exome sequencing.

Oncotarget
Cho, Soo Young SY; Choi, Minhye M; Ban, Hyo-Jeong HJ; Lee, Chang Hyeon CH; Park, Soojun S; Kim, HanKyeom H; Kim, Young-Sik YS; Lee, Young Seek YS; Lee, Ji-Yun JY
Publication Date: 2017-01-31

Variant appearance in text: PTEN: 190C>T; H64Y
PubMed Link: 28042953
Variant Present in the following documents:
  • oncotarget-08-8095-s002.xlsx, sheet 3
  • oncotarget-08-8095-s002.xlsx, sheet 2
  • oncotarget-08-8095-s002.xlsx, sheet 10
View BVdb publication page