SETX c.6507G>C ;(p.G2169=)

Variant ID: 9-135158690-C-G

NM_015046.5(SETX):c.6507G>C;(p.G2169=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics
Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ
Publication Date: 2020

Variant appearance in text: SETX: G2169G
PubMed Link: 33281875
Variant Present in the following documents:
  • Main text
  • fgene-11-577152.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: SETX: G2169G; rs34073320
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page