CHD7 c.1673C>T ;(p.P558L)

Variant ID: 8-61693566-C-T

NM_017780.3(CHD7):c.1673C>T;(p.P558L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: CHD7: 1673C>T; Pro558Leu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: CHD7: 1673C>T; P558L
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: CHD7: 1673C>T; P558L
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page