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RUNX2 c.998C>G ;(p.T333S)
Variant ID: 6-45480121-C-G
NM_001024630.3(
RUNX2
):c.998C>G;(p.T333S)
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:
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Npj Genomic Medicine
Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL
Publication Date: 2021-12-03
Variant appearance in text: CCD: T333S
PubMed Link:
34862408
Variant Present in the following documents:
41525_2021_265_MOESM1_ESM.pdf
View BVdb publication page
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Npj Genomic Medicine
Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL
Publication Date: 2021-12-03
Variant appearance in text: CCD: T333S
PubMed Link:
34862408
Variant Present in the following documents:
41525_2021_265_MOESM1_ESM.pdf
View BVdb publication page