TET2 c.2942T>C ;(p.I981T)

Variant ID: 4-106158041-T-C

NM_001127208.2(TET2):c.2942T>C;(p.I981T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Haematologica
Pastor, Victor B VB; Sahoo, Sushree S SS; Boklan, Jessica J; Schwabe, Georg C GC; Saribeyoglu, Ebru E; Strahm, Brigitte B; Lebrecht, Dirk D; Voss, Matthias M; Bryceson, Yenan T YT; Erlacher, Miriam M; Ehninger, Gerhard G; Niewisch, Marena M; Schlegelberger, Brigitte B; Baumann, Irith I; Achermann, John C JC; Shimamura, Akiko A; Hochrein, Jochen J; TedgÄrd, Ulf U; Nilsson, Lars L; Hasle, Henrik H; Boerries, Melanie M; Busch, Hauke H; Niemeyer, Charlotte M CM; Wlodarski, Marcin W MW
Publication Date: 2018-03

Variant appearance in text: TET2: I981T
PubMed Link: 29217778
Variant Present in the following documents:
  • Main text
  • 1030427.pdf
View BVdb publication page