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TLN2 c.5401G>A ;(p.A1801T)
Variant ID: 15-63068996-G-A
NM_015059.2(
TLN2
):c.5401G>A;(p.A1801T)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A Novel CD3G Mutation in a Taiwanese Patient With Normal T Regulatory Function Presenting With the CVID Phenotype Free of Autoimmunity-Analysis of all Genotypes and Phenotypes.
Frontiers In Immunology
Lee, Wen-I WI; Fan, Wen-Lang WL; Lu, Chun-Hao CH; Chen, Shih-Hsiang SH; Kuo, Ming-Ling ML; Lin, Syh-Jae SJ; Tsai, Weng-Sheng WS; Jaing, Tang-Her TH; Chen, Li-Chen LC; Yeh, Kuo-Wei KW; Yao, Tsung-Chieh TC; Huang, Jing-Long JL
Publication Date: 2019
Variant appearance in text: TLN2: A1801T; rs141816570
PubMed Link:
31921117
Variant Present in the following documents:
Data_Sheet_1.pdf
View BVdb publication page