TMEM230 c.330A>G ;(p.A110=)

Variant ID: 20-5086915-T-C

NM_001009923.1(TMEM230):c.330A>G;(p.A110=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: C20orf30: 330A>G
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



TMEM230 in Parkinson's disease in a southern Spanish population.

Plos One
Tejera-Parrado, Cristina C; Jesús, Silvia S; López-Ruíz, Adrián A; Buiza-Rueda, Dolores D; Bonilla-Toribio, Marta M; Bernal-Bernal, Inmaculada I; Periñán, María Teresa MT; Vargas-González, Laura L; Gómez-Garre, Pilar P; Mir, Pablo P
Publication Date: 2018

Variant appearance in text: TMEM230: 330A>G; Ala110Ala; rs6107576
PubMed Link: 29771939
Variant Present in the following documents:
  • Main text
  • pone.0197271.s001.pdf
  • pone.0197271.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TMEM230: A110A; rs6107576
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page