TBX6 c.521T>A ;(p.I174N)

Variant ID: 16-30100364-A-T

NM_004608.3(TBX6):c.521T>A;(p.I174N)

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:

Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.

Plos One
Abe, Koichiro K; Takamatsu, Nobuhiko N; Ishikawa, Kumiko K; Tsurumi, Toshiko T; Tanimoto, Sho S; Sakurai, Yukina Y; Lisse, Thomas S TS; Lisse, Thomas T; Imai, Kenji K; Serikawa, Tadao T; Mashimo, Tomoji T
Publication Date: 2015

Variant appearance in text: TBX6: I174N
PubMed Link: 26090680
Variant Present in the following documents:
  • Main text
  • pone.0130231.pdf
View BVdb publication page