CLCN6 c.88-144T>C

Variant ID: 1-11867044-T-C

NM_001286.3(CLCN6):c.88-144T>C

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3737964
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring.

Bmc Cardiovascular Disorders
Sun, Mengting M; Wang, Tingting T; Huang, Peng P; Diao, Jingyi J; Zhang, Senmao S; Li, Jinqi J; Luo, Liu L; Li, Yihuan Y; Chen, Letao L; Liu, Yiping Y; Wei, Jianhui J; Song, Xinli X; Sheng, Xiaoqi X; Qin, Jiabi J
Publication Date: 2021-06-14

Variant appearance in text: rs3737964
PubMed Link: 34126931
Variant Present in the following documents:
  • Main text
  • 12872_2021_Article_2117.pdf
View BVdb publication page



Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology
Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L
Publication Date: 2020

Variant appearance in text: rs3737964
PubMed Link: 33195260
Variant Present in the following documents:
  • Main text
  • fcell-08-592271.pdf
View BVdb publication page



A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression.

Scientific Reports
Song, Fan F; Tao, Yu Y; Sun, Yue Y; Saffen, David D
Publication Date: 2019-12-27

Variant appearance in text: rs3737964
PubMed Link: 31882953
Variant Present in the following documents:
  • 41598_2019_56494_MOESM1_ESM.pdf
View BVdb publication page



Polymorphisms of MTHFR and TYMS predict capecitabine-induced hand-foot syndrome in patients with metastatic breast cancer.

Cancer Communications (London, England)
Lin, Shaoyan S; Yue, Jian J; Guan, Xiuwen X; Yuan, Peng P; Wang, Jiayu J; Luo, Yang Y; Fan, Ying Y; Cai, Ruigang R; Li, Qiao Q; Chen, Shanshan S; Zhang, Pin P; Li, Qing Q; Ma, Fei F; Xu, Binghe B
Publication Date: 2019-10-11

Variant appearance in text: rs3737964
PubMed Link: 31601265
Variant Present in the following documents:
  • Main text
  • 40880_2019_Article_399.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: rs3737964
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: rs3737964
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



The rs3737964 single-nucleotide polymorphism of the chloride channel-6 gene as a risk factor for coronary heart disease.

Molecular Genetics & Genomic Medicine
Zhang, Li L; Zhang, Tao T; Xiang, Zhengkai Z; Lu, Shengqiang S
Publication Date: 2015-11

Variant appearance in text: rs3737964
PubMed Link: 26740945
Variant Present in the following documents:
  • Main text
  • MGG3-3-537.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs3737964
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children.

Clinical Pharmacology And Therapeutics
Pussegoda, K K; Ross, C J CJ; Visscher, H H; Yazdanpanah, M M; Brooks, B B; Rassekh, S R SR; Zada, Y F YF; Dubé, M-P MP; Carleton, B C BC; Hayden, M R MR; ,
Publication Date: 2013-08

Variant appearance in text: rs3737964
PubMed Link: 23588304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Study between Folate Pathway Gene Single Nucleotide Polymorphisms and Gastric Cancer in Koreans.

Genomics & Informatics
Yoo, Jae-Young JY; Kim, Sook-Young SY; Hwang, Jung-Ah JA; Hong, Seung-Hyun SH; Shin, Aesun A; Choi, Il Ju IJ; Lee, Yeon-Su YS
Publication Date: 2012-09

Variant appearance in text: rs3737964
PubMed Link: 23166529
Variant Present in the following documents:
  • Main text
  • gni-10-184.pdf
View BVdb publication page



Folate pathway and nonsyndromic cleft lip and palate.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Blanton, Susan H SH; Henry, Robin R RR; Yuan, Quiping Q; Mulliken, John B JB; Stal, Samuel S; Finnell, Richard H RH; Hecht, Jacqueline T JT
Publication Date: 2011-01

Variant appearance in text: rs3737964
PubMed Link: 21254359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Levine, A Joan AJ; Figueiredo, Jane C JC; Lee, Won W; Poynter, Jenny N JN; Conti, David D; Duggan, David J DJ; Campbell, Peter T PT; Newcomb, Polly P; Martinez, Maria Elena ME; Hopper, John L JL; Le Marchand, Loic L; Baron, John A JA; Limburg, Paul J PJ; Ulrich, Cornelia M CM; Haile, Robert W RW
Publication Date: 2010-01

Variant appearance in text: rs3737964
PubMed Link: 20056627
Variant Present in the following documents:
  • Main text
View BVdb publication page



118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

Bmc Medical Genetics
Shaw, Gary M GM; Lu, Wei W; Zhu, Huiping H; Yang, Wei W; Briggs, Farren B S FB; Carmichael, Suzan L SL; Barcellos, Lisa F LF; Lammer, Edward J EJ; Finnell, Richard H RH
Publication Date: 2009-06-03

Variant appearance in text: rs3737964
PubMed Link: 19493349
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-49.pdf
View BVdb publication page



Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.

Genetic Epidemiology
Boyles, Abee L AL; Wilcox, Allen J AJ; Taylor, Jack A JA; Shi, Min M; Weinberg, Clarice R CR; Meyer, Klaus K; Fredriksen, Ase A; Ueland, Per Magne PM; Johansen, Anne Marte W AM; Drevon, Christian A CA; Jugessur, Astanand A; Trung, Truc Nguyen TN; Gjessing, Håkon K HK; Vollset, Stein Emil SE; Murray, Jeffrey C JC; Christensen, Kaare K; Lie, Rolv T RT
Publication Date: 2009-04

Variant appearance in text: rs3737964
PubMed Link: 19048631
Variant Present in the following documents:
  • Main text
View BVdb publication page