RUNX2 c.371C>G ;(p.S124W)

Variant ID: 6-45390642-C-G

NM_001024630.3(RUNX2):c.371C>G;(p.S124W)

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 a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells.

Odontology
Hamada, Atsuko A; Mukasa, Hanae H; Taguchi, Yuki Y; Akagi, Eri E; Obayashi, Fumitaka F; Yamasaki, Sachiko S; Kanda, Taku T; Koizumi, Koichi K; Toratani, Shigeaki S; Okamoto, Tetsuji T
Publication Date: 2022-07

Variant appearance in text: RUNX2: 371C>G
PubMed Link: 34779963
Variant Present in the following documents:
  • Main text
  • 10266_2021_Article_674.pdf
View BVdb publication page