SI c.4729G>A ;(p.E1577K)

Variant ID: 3-164712157-C-T

NM_001041.3(SI):c.4729G>A;(p.E1577K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.

Frontiers In Endocrinology
Globa, Evgenia E; Zelinska, Natalia N; Shcherbak, Yulia Y; Bignon-Topalovic, Joelle J; Bashamboo, Anu A; MсElreavey, Ken K
Publication Date: 2022

Variant appearance in text: SI: E1577K
PubMed Link: 35432193
Variant Present in the following documents:
  • fendo-13-810782.pdf
View BVdb publication page



Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Clinical Sarcoma Research
Heinrich, Michael C MC; Patterson, Janice J; Beadling, Carol C; Wang, Yuexiang Y; Debiec-Rychter, Maria M; Dewaele, Barbara B; Corless, Christopher L CL; Duensing, Anette A; Raut, Chandrajit P CP; Rubin, Brian B; Ordog, Tamas T; van de Rijn, Matt M; Call, Jerry J; Mühlenberg, Thomas T; Fletcher, Jonathan A JA; Bauer, Sebastian S
Publication Date: 2019

Variant appearance in text: SI: 4729G>A
PubMed Link: 30867899
Variant Present in the following documents:
  • 13569_2019_112_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page