COMT c.170A>G ;(p.Q57R)

Variant ID: 22-19950219-A-G

NM_000754.3(COMT):c.170A>G;(p.Q57R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.

Human Mutation
Tan, Xiaohui X; Anzick, Sarah L SL; Khan, Sikandar G SG; Ueda, Takahiro T; Stone, Gary G; Digiovanna, John J JJ; Tamura, Deborah D; Wattendorf, Daniel D; Busch, David D; Brewer, Carmen C CC; Zalewski, Christopher C; Butman, John A JA; Griffith, Andrew J AJ; Meltzer, Paul S PS; Kraemer, Kenneth H KH
Publication Date: 2013-09

Variant appearance in text: COMT: Q57R
PubMed Link: 23661601
Variant Present in the following documents:
  • Main text
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