RUNX2 c.103C>T ;(p.Q35*)

Variant ID: 6-45390374-C-T

NM_001024630.3(RUNX2):c.103C>T;(p.Q35*)

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 and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.

Annals Of Clinical And Translational Neurology
Chen, Cong-Xin CX; Li, Jia-Qi JQ; Dong, Hai-Lin HL; Liu, Gong-Lu GL; Bai, Ge G; Wu, Zhi-Ying ZY
Publication Date: 2020-12

Variant appearance in text: CCD: 103C>T
PubMed Link: 33136338
Variant Present in the following documents:
  • ACN3-7-2381.pdf
View BVdb publication page