TOMM7 c.86C>T ;(p.P29L)

Variant ID: 7-22862313-G-A

NM_019059.3(TOMM7):c.86C>T;(p.P29L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.

The Journal Of Clinical Investigation
Garg, Abhimanyu A; Keng, Wee-Teik WT; Chen, Zhenkang Z; Sathe, Adwait Amod AA; Xing, Chao C; Kailasam, Pavithira Devi PD; Shao, Yanqiu Y; Lesner, Nicholas P NP; Llamas, Claire B CB; Agarwal, Anil K AK; Mishra, Prashant P
Publication Date: 2022-12-01

Variant appearance in text: TOMM7: P29L; rs778567973
PubMed Link: 36282599
Variant Present in the following documents:
  • jci-132-156864-s044.pdf
  • jci-132-156864.pdf
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: TOMM7: P29L
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page