FOLR2 c.-24-79T>A

Variant ID: 11-71929526-T-A

NM_000803.4(FOLR2):c.-24-79T>A

This variant was identified in 11 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: rs651646
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



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs651646
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_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: FOLR2: -24-79T>A; rs651646
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: FOLR2: -24-79T>A; rs651646
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
  • CNR2-4-e1335-s003.xlsx, sheet 2
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: FOLR2: -24-79T>A; rs651646
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.

Environment International
Niedzwiecki, Megan M MM; Liu, Xinhua X; Zhu, Huiping H; Hall, Megan N MN; Slavkovich, Vesna V; Ilievski, Vesna V; Levy, Diane D; Siddique, Abu B AB; Kibriya, Muhammad G MG; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Navas-Acien, Ana A; Graziano, Joseph H JH; Finnell, Richard H RH; Ahsan, Habibul H; Gamble, Mary V MV
Publication Date: 2018-04

Variant appearance in text: rs651646
PubMed Link: 29421402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in folate transporter genes and risk for human myelomeningocele.

American Journal Of Medical Genetics. Part A
Findley, Tina O TO; Tenpenny, Joy C JC; O'Byrne, Michelle R MR; Morrison, Alanna C AC; Hixson, James E JE; Northrup, Hope H; Au, Kit Sing KS
Publication Date: 2017-11

Variant appearance in text: rs651646
PubMed Link: 28948692
Variant Present in the following documents:
  • Main text
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: rs651646
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Neural tube defects, folic acid and methylation.

International Journal Of Environmental Research And Public Health
Imbard, Apolline A; Benoist, Jean-François JF; Blom, Henk J HJ
Publication Date: 2013-09-17

Variant appearance in text: rs651646
PubMed Link: 24048206
Variant Present in the following documents:
  • Main text
  • ijerph-10-04352.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: rs651646
PubMed Link: 21254359
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: rs651646
PubMed Link: 19493349
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-49.pdf
View BVdb publication page