HOXC9 c.365C>T ;(p.A122V)

Variant ID: 12-54394337-C-T

NM_006897.1(HOXC9):c.365C>T;(p.A122V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs11829948
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Possible association of single nucleotide polymorphisms in the 3' untranslated region of HOXB9 with acetabular overcoverage.

Bone & Joint Research
Sekimoto, T T; Kurogi, S S; Funamoto, T T; Ota, T T; Watanabe, S S; Sakamoto, T T; Hamada, H H; Chosa, E E
Publication Date: 2015-04

Variant appearance in text: rs11829948
PubMed Link: 25833894
Variant Present in the following documents:
  • Main text
  • bonejointres-04-50.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: HOXC9: A122V; rs11829948
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page