RUNX2 c.213_214insCAACAACAACAA ;(p.Q68_Q71dup)

Variant ID: 6-45390484-G-GCAACAACAACAA

NM_001024630.3(RUNX2):c.213_214insCAACAACAACAA;(p.Q68_Q71dup)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia.

Molecular Syndromology
Mastushita, Masaki M; Kitoh, Hiroshi H; Subasioglu, Asli A; Kurt Colak, Fatma F; Dundar, Munis M; Mishima, Kenichi K; Nishida, Yoshihiro Y; Ishiguro, Naoki N
Publication Date: 2015-02

Variant appearance in text: RUNX2: Q71_E72insQQQQ
PubMed Link: 25852448
Variant Present in the following documents:
  • Main text
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