KMT2D c.14873C>G ;(p.S4958*)

Variant ID: 12-49420876-G-C

NM_003482.3(KMT2D):c.14873C>G;(p.S4958*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-exome sequencing identifies recurrent AKT1 mutations in sclerosing hemangioma of lung.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Jung, Seung-Hyun SH; Kim, Min Sung MS; Lee, Sung-Hak SH; Park, Hyun-Chun HC; Choi, Hyun Joo HJ; Maeng, Leeso L; Min, Ki Ouk KO; Kim, Jeana J; Park, Tae In TI; Shin, Ok Ran OR; Kim, Tae-Jung TJ; Xu, Haidong H; Lee, Kyo Young KY; Kim, Tae-Min TM; Song, Sang Yong SY; Lee, Charles C; Chung, Yeun-Jun YJ; Lee, Sug Hyung SH
Publication Date: 2016-09-20

Variant appearance in text: KMT2D: S4958X
PubMed Link: 27601661
Variant Present in the following documents:
  • Main text
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