F2 c.652_653delinsAC ;(p.G218T)

Variant ID: 11-46747501-GG-AC

NM_000506.3(F2):c.652_653delinsAC;(p.G218T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Nature Genetics
Valente, Enza Maria EM; Logan, Clare V CV; Mougou-Zerelli, Soumaya S; Lee, Jeong Ho JH; Silhavy, Jennifer L JL; Brancati, Francesco F; Iannicelli, Miriam M; Travaglini, Lorena L; Romani, Sveva S; Illi, Barbara B; Adams, Matthew M; Szymanska, Katarzyna K; Mazzotta, Annalisa A; Lee, Ji Eun JE; Tolentino, Jerlyn C JC; Swistun, Dominika D; Salpietro, Carmelo D CD; Fede, Carmelo C; Gabriel, Stacey S; Russ, Carsten C; Cibulskis, Kristian K; Sougnez, Carrie C; Hildebrandt, Friedhelm F; Otto, Edgar A EA; Held, Susanne S; Diplas, Bill H BH; Davis, Erica E EE; Mikula, Mario M; Strom, Charles M CM; Ben-Zeev, Bruria B; Lev, Dorit D; Sagie, Tally Lerman TL; Michelson, Marina M; Yaron, Yuval Y; Krause, Amanda A; Boltshauser, Eugen E; Elkhartoufi, Nadia N; Roume, Joelle J; Shalev, Stavit S; Munnich, Arnold A; Saunier, Sophie S; Inglehearn, Chris C; Saad, Ali A; Alkindy, Adila A; Thomas, Sophie S; Vekemans, Michel M; Dallapiccola, Bruno B; Katsanis, Nicholas N; Johnson, Colin A CA; AttiƩ-Bitach, Tania T; Gleeson, Joseph G JG
Publication Date: 2010-07

Variant appearance in text: F2: G218T
PubMed Link: 20512146
Variant Present in the following documents:
  • Main text
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