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RUNX2 c.580G>C ;(p.G194R)
Variant ID: 6-45399756-G-C
NM_001024630.3(
RUNX2
):c.580G>C;(p.G194R)
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:
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Molecular Genetics And Metabolism
Fu, Rong R; Sutcliffe, Diane D; Zhao, Hong H; Huang, Xinyi X; Schretlen, David J DJ; Benkovic, Steve S; Jinnah, H A HA
Publication Date: 2015-01
Variant appearance in text: CCD: 580G>C
PubMed Link:
25481104
Variant Present in the following documents:
Main text
View BVdb publication page