HMCN1 c.10366G>A ;(p.A3456T)

Variant ID: 1-186064446-G-A

NM_031935.2(HMCN1):c.10366G>A;(p.A3456T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Genome Biology
Gui, Hongsheng H; Schriemer, Duco D; Cheng, William W WW; Chauhan, Rajendra K RK; Antiňolo, Guillermo G; Berrios, Courtney C; Bleda, Marta M; Brooks, Alice S AS; Brouwer, Rutger W W RW; Burns, Alan J AJ; Cherny, Stacey S SS; Dopazo, Joaquin J; Eggen, Bart J L BJ; Griseri, Paola P; Jalloh, Binta B; Le, Thuy-Linh TL; Lui, Vincent C H VC; Luzón-Toro, Berta B; Matera, Ivana I; Ngan, Elly S W ES; Pelet, Anna A; Ruiz-Ferrer, Macarena M; Sham, Pak C PC; Shepherd, Iain T IT; So, Man-Ting MT; Sribudiani, Yunia Y; Tang, Clara S M CS; van den Hout, Mirjam C G N MC; van der Linde, Herma C HC; van Ham, Tjakko J TJ; van IJcken, Wilfred F J WF; Verheij, Joke B G M JB; Amiel, Jeanne J; Borrego, Salud S; Ceccherini, Isabella I; Chakravarti, Aravinda A; Lyonnet, Stanislas S; Tam, Paul K H PK; Garcia-Barceló, Maria-Mercè MM; Hofstra, Robert M W RM
Publication Date: 2017-03-08

Variant appearance in text: HMCN1: A3456T
PubMed Link: 28274275
Variant Present in the following documents:
  • Main text
  • 13059_2017_Article_1174.pdf
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