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A2M c.1229A>C ;(p.N410T)
Variant ID: 12-9256872-T-G
NM_000014.4(
A2M
):c.1229A>C;(p.N410T)
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:
Novel heterozygous mutation in alpha-2-macroglobulin (A2M) suppressing the binding of amyloid-β (Aβ).
Frontiers In Neurology
Qiu, Guozhen G; Cao, Liming L; Chen, Yong-Jun YJ
Publication Date: 2022
Variant appearance in text: A2M: 1229A>C; N410T
PubMed Link:
36698894
Variant Present in the following documents:
Main text
fneur-13-1090900.pdf
View BVdb publication page
Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.
Frontiers In Endocrinology
Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y
Publication Date: 2022
Variant appearance in text: A2M: N410T; rs766284551
PubMed Link:
35966080
Variant Present in the following documents:
Table_1.xlsx, sheet 5
View BVdb publication page