TBX6 c.1158T>C ;(p.F386=)

Variant ID: 16-30097699-A-G

NM_004608.3(TBX6):c.1158T>C;(p.F386=)

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:

Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis.

Spine Deformity
Baschal, Erin E EE; Swindle, Kandice K; Justice, Cristina M CM; Baschal, Robin M RM; Perera, Anoja A; Wethey, Cambria I CI; Poole, Alex A; Pourquié, Olivier O; Tassy, Olivier O; Miller, Nancy H NH
Publication Date: 2015-07

Variant appearance in text: TBX6: Phe386Phe
PubMed Link: 26120555
Variant Present in the following documents:
  • Main text
View BVdb publication page