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TLR4 c.277A>G ;(p.I93V)
Variant ID: 9-120474683-A-G
NM_138554.4(
TLR4
):c.277A>G;(p.I93V)
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:
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29
Variant appearance in text: TLR4: I93V
PubMed Link:
30497413
Variant Present in the following documents:
12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population.
Bmc Medical Genetics
Henmyr, V V; Carlberg, D D; Manderstedt, E E; Lind-Halldén, C C; Säll, T T; Cardell, L O LO; Halldén, C C
Publication Date: 2017-02-23
Variant appearance in text: TLR4: I93V; rs56302444
PubMed Link:
28228119
Variant Present in the following documents:
12881_2017_379_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page