CCDC39 c.1781C>T ;(p.T594I)

Variant ID: 3-180359874-G-A

NM_181426.1(CCDC39):c.1781C>T;(p.T594I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


A Study on the Genetics of Primary Ciliary Dyskinesia.

Journal Of Clinical Medicine
Alsamri, Mohammed T MT; Alabdouli, Amnah A; Iram, Durdana D; Alkalbani, Alia M AM; Almarzooqi, Ayesha S AS; Souid, Abdul-Kader AK; Vijayan, Ranjit R
Publication Date: 2021-10-30

Variant appearance in text: CCDC39: 1781C>T; Thr594Ile; rs140505857
PubMed Link: 34768622
Variant Present in the following documents:
  • Main text
  • jcm-10-05102.pdf
View BVdb publication page



Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus.

Frontiers In Genetics
Cannarella, Rossella R; Maniscalchi, Eugenia Tiziana ET; Condorelli, Rosita Angela RA; Scalia, Marina M; Guerri, Giulia G; La Vignera, Sandro S; Bertelli, Matteo M; Calogero, Aldo Eugenio AE
Publication Date: 2020

Variant appearance in text: CCDC39: 1781C>T; Thr594Ile
PubMed Link: 33005176
Variant Present in the following documents:
  • Main text
  • fgene-11-00974.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: CCDC39: 1781C>T; Thr594Ile
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: CCDC39: T594I; rs140505857
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: rs140505857
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
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: CCDC39: T594I
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Nature Genetics
Merveille, Anne-Christine AC; Davis, Erica E EE; Becker-Heck, Anita A; Legendre, Marie M; Amirav, Israel I; Bataille, Géraldine G; Belmont, John J; Beydon, Nicole N; Billen, Frédéric F; Clément, Annick A; Clercx, Cécile C; Coste, André A; Crosbie, Rachelle R; de Blic, Jacques J; Deleuze, Stephane S; Duquesnoy, Philippe P; Escalier, Denise D; Escudier, Estelle E; Fliegauf, Manfred M; Horvath, Judith J; Hill, Kent K; Jorissen, Mark M; Just, Jocelyne J; Kispert, Andreas A; Lathrop, Mark M; Loges, Niki Tomas NT; Marthin, June K JK; Momozawa, Yukihide Y; Montantin, Guy G; Nielsen, Kim G KG; Olbrich, Heike H; Papon, Jean-François JF; Rayet, Isabelle I; Roger, Gilles G; Schmidts, Miriam M; Tenreiro, Henrique H; Towbin, Jeffrey A JA; Zelenika, Diana D; Zentgraf, Hanswalter H; Georges, Michel M; Lequarré, Anne-Sophie AS; Katsanis, Nicholas N; Omran, Heymut H; Amselem, Serge S
Publication Date: 2011-01

Variant appearance in text: CCDC39: Thr594Ile
PubMed Link: 21131972
Variant Present in the following documents:
  • Main text
View BVdb publication page