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CCT5 c.1283C>A ;(p.S428Y)
Variant ID: 5-10262696-C-A
NM_012073.3(
CCT5
):c.1283C>A;(p.S428Y)
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:
Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.
International Journal Of Molecular Medicine
Yamada, Yoshiji Y; Sakuma, Jun J; Takeuchi, Ichiro I; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Muramatsu, Masaaki M; Sawabe, Motoji M; Fujiwara, Yoshinori Y; Taniguchi, Yu Y; Obuchi, Shuichi S; Kawai, Hisashi H; Shinkai, Shoji S; Mori, Seijiro S; Arai, Tomio T; Tanaka, Masashi M
Publication Date: 2017-05
Variant appearance in text: rs201280643
PubMed Link:
28339009
Variant Present in the following documents:
Main text
ijmm-39-05-1091.pdf
View BVdb publication page