CBS c.316+728C>T

Variant ID: 21-44487891-G-A

NM_000071.2(CBS):c.316+728C>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: CBS: 316+728C>T; rs234713
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs234713
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
de León Bautista, Mercedes Piedad MP; Romero-Valdovinos, Mirza M; Zavaleta-Villa, Beatriz B; Martínez-Flores, Arony A; Olivo-Díaz, Angélica A
Publication Date: 2018-12

Variant appearance in text: rs234713
PubMed Link: 30380942
Variant Present in the following documents:
  • Main text
  • 10.1177_1076029618808913.pdf
View BVdb publication page



Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.

American Journal Of Medical Genetics. Part A
Au, Kit Sing KS; Findley, Tina O TO; Northrup, Hope H
Publication Date: 2017-11

Variant appearance in text: rs234713
PubMed Link: 28944587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.

Environmental Health Perspectives
Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y
Publication Date: 2015-05

Variant appearance in text: rs234713
PubMed Link: 25575156
Variant Present in the following documents:
  • ehp.1307883.s001.508.pdf
View BVdb publication page



The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism.

Biomed Research International
Liang, Shuang S; Zhou, Yuanpeng Y; Wang, Huijun H; Qian, Yanyan Y; Ma, Duan D; Tian, Weidong W; Persaud-Sharma, Vishwani V; Yu, Chen C; Ren, Yunyun Y; Zhou, Shufeng S; Li, Xiaotian X
Publication Date: 2014

Variant appearance in text: rs234713
PubMed Link: 24524080
Variant Present in the following documents:
  • Main text
  • BMRI2014-560183.pdf
View BVdb publication page



Association of SMO polymorphisms and neural tube defects in the Chinese population from Shanxi Province.

International Journal Of Clinical And Experimental Medicine
Wang, Zhen Z; Shangguan, Shaofang S; Lu, Xiaolin X; Chang, Shaoyan S; Li, Rui R; Wu, Lihua L; Bao, Yihua Y; Niu, Bo B; Wang, Li L; Zhang, Ting T
Publication Date: 2013

Variant appearance in text: rs234713
PubMed Link: 24260604
Variant Present in the following documents:
  • Main text
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: rs234713
PubMed Link: 21254359
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.

Genetic Epidemiology
Locke, Adam E AE; Dooley, Kenneth J KJ; Tinker, Stuart W SW; Cheong, Soo Yeon SY; Feingold, Eleanor E; Allen, Emily G EG; Freeman, Sallie B SB; Torfs, Claudine P CP; Cua, Clifford L CL; Epstein, Michael P MP; Wu, Michael C MC; Lin, Xihong X; Capone, George G; Sherman, Stephanie L SL; Bean, Lora J H LJ
Publication Date: 2010-09

Variant appearance in text: rs234713
PubMed Link: 20718043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

Developmental Disabilities Research Reviews
Au, Kit Sing KS; Ashley-Koch, Allison A; Northrup, Hope H
Publication Date: 2010

Variant appearance in text: rs234713
PubMed Link: 20419766
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: rs234713
PubMed Link: 19493349
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-49.pdf
View BVdb publication page