ELN c.593C>T ;(p.P198L)

Variant ID: 7-73461047-C-T

NM_000501.3(ELN):c.593C>T;(p.P198L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Spatiotemporal assessment of immunogenomic heterogeneity in multiple myeloma.

Blood Advances
Merz, Maximilian M; Hu, Qiang Q; Merz, Almuth Maria Anni AMA; Wang, Jie J; Hutson, Nicholas N; Rondeau, Cherie C; Celotto, Kimberly K; Belal, Ahmed A; Alberico, Ronald R; Block, AnneMarie A; Mohammadpour, Hemn H; Wallace, Paul K PK; Tario, Joseph D JD; Luce, Jesse J; Glenn, Sean T ST; Singh, Prashant K PK; Samur, Mehmet Kemal MK; Munshi, Nikhil C NC; Liu, Song S; McCarthy, Philip L PL; Wei, Lei L; Hillengass, Jens J
Publication Date: 2022-07-22

Variant appearance in text: ELN: P198L
PubMed Link: 35868022
Variant Present in the following documents:
  • BLOODA_ADV-2022-007457-mmc2.xlsx, sheet 1
View BVdb publication page



Co-occurrence of PML-RARA gene fusion, chromosome 8 trisomy, and FLT3 ITD mutation in a young female patient with de novo acute myeloid leukemia and early death: A CARE case report.

Medicine
Tripon, Florin F; Crauciuc, George Andrei GA; Bogliş, Alina A; Moldovan, Valeriu V; Sándor-Kéri, Johanna J; Benedek, István Jr IJ; Trifa, Adrian Pavel AP; Bănescu, Claudia C
Publication Date: 2020-04

Variant appearance in text: ELN: Pro198Leu
PubMed Link: 32243411
Variant Present in the following documents:
  • medi-99-e19730.pdf
View BVdb publication page



Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics
Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ
Publication Date: 2018-12

Variant appearance in text: ELN: 593C>T; P198L
PubMed Link: 30602096
Variant Present in the following documents:
  • Main text
  • gi-2018-16-4-e35.pdf
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: ELN: 593C>T
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page