NEFH c.1169A>G ;(p.N390S)

Variant ID: 22-29881797-A-G

NM_021076.3(NEFH):c.1169A>G;(p.N390S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Journal Of Medical Genetics
Chen, Yong-Ping YP; Yu, Shi-Hui SH; Wei, Qian-Qian QQ; Cao, Bei B; Gu, Xiao-Jing XJ; Chen, Xue-Ping XP; Song, Wei W; Zhao, Bi B; Wu, Ying Y; Sun, Ming-Ming MM; Liu, Fei-Fei FF; Hou, Yan-Bing YB; Ou, Ru-Wei RW; Zhang, Ling-Yu LY; Liu, Kun-Cheng KC; Lin, Jun-Yu JY; Xu, Xin-Ran XR; Li, Chun-Yu CY; Yang, Jing J; Jiang, Zheng Z; Liu, Jiao J; Cheng, Yang-Fan YF; Xiao, Yi Y; Chen, Ke K; Feng, Fei F; Cai, Ying-Ying YY; Li, Shi-Rong SR; Hu, Tao T; Yuan, Xiao-Qin XQ; Guo, Xiao-Yan XY; Liu, Hui H; Han, Qing Q; Zhou, Qing-Qing QQ; Shao, Na N; Li, Jian-Peng JP; Pan, Ping-Lei PL; Ma, Sha S; Shang, Hui-Fang HF
Publication Date: 2022-09

Variant appearance in text: NEFH: 1169A>G; Asn390Ser; rs148653339
PubMed Link: 34544842
Variant Present in the following documents:
  • jmedgenet-2021-107965supp003.pdf
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs148653339
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page