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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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