HR c.1618_1634del ;(p.E540Pfs*2)

Variant ID: 8-21982939-GCCGGACCCTGGGCCTTC-G

NM_005144.4(HR):c.1618_1634del;(p.E540Pfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: HR: 1617_1633del
PubMed Link: 15739154
Variant Present in the following documents:
  • Main text
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