ZC3H4 c.492+125A>G

Variant ID: 19-47597102-T-C

NM_015168.1(ZC3H4):c.492+125A>G

This variant was identified in 8 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: rs10408163
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: ZC3H4: 492+125A>G; rs10408163
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study.

Translational Psychiatry
Alemany-Navarro, María M; Cruz, Raquel R; Real, Eva E; Segalàs, Cinto C; Bertolín, Sara S; Rabionet, Raquel R; Carracedo, Ángel Á; Menchón, Jose M JM; Alonso, Pino P
Publication Date: 2020-05-18

Variant appearance in text: rs10408163
PubMed Link: 32424139
Variant Present in the following documents:
  • Main text
  • 41398_2020_Article_804.pdf
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: ZC3H4: 492+125A>G; rs10408163
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

Plos Genetics
Qi, Guanghao G; Chatterjee, Nilanjan N
Publication Date: 2018-10

Variant appearance in text: rs10408163
PubMed Link: 30289880
Variant Present in the following documents:
  • Main text
  • pgen.1007549.pdf
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: rs10408163
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Obesity and Multiple Sclerosis: A Mendelian Randomization Study.

Plos Medicine
Mokry, Lauren E LE; Ross, Stephanie S; Timpson, Nicholas J NJ; Sawcer, Stephen S; Davey Smith, George G; Richards, J Brent JB
Publication Date: 2016-06

Variant appearance in text: rs10408163
PubMed Link: 27351487
Variant Present in the following documents:
  • Main text
  • pmed.1002053.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: rs10408163
PubMed Link: 26920376
Variant Present in the following documents:
  • Main text
View BVdb publication page