HR c.868C>T ;(p.L290F)

Variant ID: 8-21985087-G-A

NM_005144.4(HR):c.868C>T;(p.L290F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics
Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H
Publication Date: 2022

Variant appearance in text: HR: 868C>T; L290F
PubMed Link: 35910219
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 7
View BVdb publication page



Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

American Journal Of Human Genetics
Johnston, Jennifer J JJ; Olivos-Glander, Isabelle I; Killoran, Christina C; Elson, Emma E; Turner, Joyce T JT; Peters, Kathryn F KF; Abbott, Margaret H MH; Aughton, David J DJ; Aylsworth, Arthur S AS; Bamshad, Michael J MJ; Booth, Carol C; Curry, Cynthia J CJ; David, Albert A; Dinulos, Mary Beth MB; Flannery, David B DB; Fox, Michelle A MA; Graham, John M JM; Grange, Dorothy K DK; Guttmacher, Alan E AE; Hannibal, Mark C MC; Henn, Wolfram W; Hennekam, Raoul C M RC; Holmes, Lewis B LB; Hoyme, H Eugene HE; Leppig, Kathleen A KA; Lin, Angela E AE; Macleod, Patrick P; Manchester, David K DK; Marcelis, Carlo C; Mazzanti, Laura L; McCann, Emma E; McDonald, Marie T MT; Mendelsohn, Nancy J NJ; Moeschler, John B JB; Moghaddam, Billur B; Neri, Giovanni G; Newbury-Ecob, Ruth R; Pagon, Roberta A RA; Phillips, John A JA; Sadler, Laurie S LS; Stoler, Joan M JM; Tilstra, David D; Walsh Vockley, Catherine M CM; Zackai, Elaine H EH; Zadeh, Touran M TM; Brueton, Louise L; Black, Graeme Charles M GC; Biesecker, Leslie G LG
Publication Date: 2005-04

Variant appearance in text:
PubMed Link: 15739154
Variant Present in the following documents:
  • Main text
View BVdb publication page