INSL6 c.295A>C ;(p.T99P)

Variant ID: 9-5164260-T-G

NM_007179.2(INSL6):c.295A>C;(p.T99P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome.

Bioscience Reports
Deng, Sheng S; Wu, Shan S; Xia, Hong H; Xiong, Wei W; Deng, Xiong X; Liao, Junxi J; Deng, Hao H; Yuan, Lamei L
Publication Date: 2020-06-26

Variant appearance in text: INSL6: 295A>C; Thr99Pro; rs147189972
PubMed Link: 32490514
Variant Present in the following documents:
  • BSR-2019-2510_supp.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: INSL6: 295A>C; Thr99Pro; rs147189972
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page