ESR1 c.742G>A ;(p.V248M)

Variant ID: 6-152201888-G-A

NM_000125.3(ESR1):c.742G>A;(p.V248M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: ESR1: 742G>A; Val248Met
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
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Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ.

Pediatric Rheumatology Online Journal
Lei, Linda L; Muhammad, Sabina S; Al-Obaidi, Muthana M; Sebire, Neil N; Cheng, Iek Leng IL; Eleftheriou, Despina D; Brogan, Paul P
Publication Date: 2018-09-26

Variant appearance in text: ESR: 742G>A
PubMed Link: 30257684
Variant Present in the following documents:
  • Main text
View BVdb publication page