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COL4A5 c.869A>C ;(p.E290A)
Variant ID: X-107823946-A-C
NM_033380.2(
COL4A5
):c.869A>C;(p.E290A)
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:
Thrombin a-chain: activation remnant or allosteric effector?
Thrombosis
Carter, Isis S R IS; Vanden Hoek, Amanda L AL; Pryzdial, Edward L G EL; Macgillivray, Ross T A RT
Publication Date: 2010
Variant appearance in text: ATS: Glu290Ala
PubMed Link:
22084659
Variant Present in the following documents:
Main text
View BVdb publication page