Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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