KMT2D c.709del ;(p.E237Sfs*24)

Variant ID: 12-49447388-TC-T

NM_003482.3(KMT2D):c.709del;(p.E237Sfs*24)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: KMT2D: 709del; E237Sfs*24
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: KMT2D: 709delG; Glu237fs
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yap, Kai Lee KL; Johnson, Amy E Knight AEK; Fischer, David D; Kandikatla, Priscilla P; Deml, Jacea J; Nelakuditi, Viswateja V; Halbach, Sara S; Jeha, George S GS; Burrage, Lindsay C LC; Bodamer, Olaf O; Benavides, Valeria C VC; Lewis, Andrea M AM; Ellard, Sian S; Shah, Pratik P; Cody, Declan D; Diaz, Alejandro A; Devarajan, Aishwarya A; Truong, Lisa L; Greeley, Siri Atma W SAW; De LeĆ³-Crutchlow, Diva D DD; Edmondson, Andrew C AC; Das, Soma S; Thornton, Paul P; Waggoner, Darrel D; Del Gaudio, Daniela D
Publication Date: 2019-01

Variant appearance in text: KMT2D: 709del; Glu237Serfs*24
PubMed Link: 29907798
Variant Present in the following documents:
  • Main text
View BVdb publication page