ZNHIT3 c.205+131T>C

Variant ID: 17-34848874-T-C

NM_004773.3(ZNHIT3):c.205+131T>C

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2306589
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ZNHIT3: 205+131T>C; rs2306589
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.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: ZNHIT3: 205+131T>C; rs2306589
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2306589
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Network-assisted analysis of GWAS data identifies a functionally-relevant gene module for childhood-onset asthma.

Scientific Reports
Liu, Y Y; Brossard, M M; Sarnowski, C C; Vaysse, A A; Moffatt, M M; Margaritte-Jeannin, P P; Llinares-López, F F; Dizier, M H MH; Lathrop, M M; Cookson, W W; Bouzigon, E E; Demenais, F F
Publication Date: 2017-04-20

Variant appearance in text: rs2306589
PubMed Link: 28428554
Variant Present in the following documents:
  • 41598_2017_1058_MOESM1_ESM.pdf
View BVdb publication page



Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors.

Multiple Sclerosis (Houndmills, Basingstoke, England)
Wang, Yunpeng Y; Bos, Steffan D SD; Harbo, Hanne F HF; Thompson, Wesley K WK; Schork, Andrew J AJ; Bettella, Francesco F; Witoelar, Aree A; Lie, Benedicte A BA; Li, Wen W; McEvoy, Linda K LK; Djurovic, Srdjan S; Desikan, Rahul S RS; Dale, Anders M AM; Andreassen, Ole A OA
Publication Date: 2016-12

Variant appearance in text: rs2306589
PubMed Link: 26920376
Variant Present in the following documents:
  • Main text
View BVdb publication page