PRNP c.730A>T ;(p.I244F)

Variant ID: 20-4680596-A-T

NM_000311.3(PRNP):c.730A>T;(p.I244F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2020-06-17

Variant appearance in text: PRNP: I244F
PubMed Link: 32560489
Variant Present in the following documents:
  • Main text
  • cells-09-01480.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PRNP: I244F
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page