SI c.684G>C ;(p.Q228H)

Variant ID: 3-164783172-C-G

NM_001041.3(SI):c.684G>C;(p.Q228H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

Clinical Genetics
Stevens, Servi J C SJC; Stumpel, Constance T R M CTRM; Diderich, Karin E M KEM; van Slegtenhorst, Marjon A MA; Abbott, Mary-Alice MA; Manning, Courtney C; Balciuniene, Jorune J; Pyle, Louise C LC; Leonard, Jacqueline J; Murrell, Jill R JR; van de Putte, Romy R; van Rooij, Iris A L M IALM; Hoischen, Alexander A; Lasko, Paul P; Brunner, Han G HG
Publication Date: 2022-02

Variant appearance in text: SI: 684G>C
PubMed Link: 34671974
Variant Present in the following documents:
  • nihms-1807412.pdf
View BVdb publication page