HEXA c.446C>T ;(p.S149F)

Variant ID: 15-72646045-G-A

NM_000520.4(HEXA):c.446C>T;(p.S149F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: HEXA: 446C>T; S149F
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: HEXA: 446C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Plos One
Ji, Haoran H; Li, Dongxiao D; Wu, Ye Y; Zhang, Quanli Q; Gu, Qiang Q; Xie, Han H; Ji, Taoyun T; Wang, Huifang H; Zhao, Lu L; Zhao, Haijuan H; Yang, Yanling Y; Feng, Hongchun H; Xiong, Hui H; Ji, Jinhua J; Yang, Zhixian Z; Kou, Liping L; Li, Ming M; Bao, Xinhua X; Chang, Xingzhi X; Zhang, Yuehua Y; Li, Li L; Li, Huijuan H; Niu, Zhengping Z; Wu, Xiru X; Xiao, Jiangxi J; Jiang, Yuwu Y; Wang, Jingmin J
Publication Date: 2018

Variant appearance in text: HEXA: 446C>T; S149F
PubMed Link: 29451896
Variant Present in the following documents:
  • pone.0188869.pdf
View BVdb publication page