HR c.2182A>G ;(p.R728G)

Variant ID: 8-21979147-T-C

NM_005144.4(HR):c.2182A>G;(p.R728G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Journal Of Medical Genetics
Doherty, D D; Parisi, M A MA; Finn, L S LS; Gunay-Aygun, M M; Al-Mateen, M M; Bates, D D; Clericuzio, C C; Demir, H H; Dorschner, M M; van Essen, A J AJ; Gahl, W A WA; Gentile, M M; Gorden, N T NT; Hikida, A A; Knutzen, D D; Ozyurek, H H; Phelps, I I; Rosenthal, P P; Verloes, A A; Weigand, H H; Chance, P F PF; Dobyns, W B WB; Glass, I A IA
Publication Date: 2010-01

Variant appearance in text: HR: 2182A>G
PubMed Link: 19574260
Variant Present in the following documents:
  • Main text
View BVdb publication page



MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Human Mutation
Brancati, Francesco F; Iannicelli, Miriam M; Travaglini, Lorena L; Mazzotta, Annalisa A; Bertini, Enrico E; Boltshauser, Eugen E; D'Arrigo, Stefano S; Emma, Francesco F; Fazzi, Elisa E; Gallizzi, Romina R; Gentile, Mattia M; Loncarevic, Damir D; Mejaski-Bosnjak, Vlatka V; Pantaleoni, Chiara C; Rigoli, Luciana L; Salpietro, Carmelo D CD; Signorini, Sabrina S; Stringini, Gilda Rita GR; Verloes, Alain A; Zabloka, Dominika D; Dallapiccola, Bruno B; Gleeson, Joseph G JG; Valente, Enza Maria EM; ,
Publication Date: 2009-02

Variant appearance in text: HR: 2182A>G
PubMed Link: 19058225
Variant Present in the following documents:
  • Main text
View BVdb publication page