MTHFD1L c.228-74C>G

Variant ID: 6-151197152-C-G

NM_015440.4(MTHFD1L):c.228-74C>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs2073067
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_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: MTHFD1L: 228-74C>G; rs2073067
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.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: MTHFD1L: 228-74C>G; rs2073067
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Risk prediction for sporadic Alzheimer's disease using genetic risk score in the Han Chinese population.

Oncotarget
Xiao, Qianyi Q; Liu, Zhi-Jun ZJ; Tao, Sha S; Sun, Yi-Min YM; Jiang, Deke D; Li, Hong-Lei HL; Chen, Haitao H; Liu, Xu X; Lapin, Brittany B; Wang, Chi-Hsiung CH; Zheng, S Lilly SL; Xu, Jianfeng J; Wu, Zhi-Ying ZY
Publication Date: 2015-11-10

Variant appearance in text: rs2073067
PubMed Link: 26543236
Variant Present in the following documents:
  • Main text
  • oncotarget-06-36955.pdf
View BVdb publication page



Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

Plos Genetics
Naj, Adam C AC; Beecham, Gary W GW; Martin, Eden R ER; Gallins, Paul J PJ; Powell, Eric H EH; Konidari, Ioanna I; Whitehead, Patrice L PL; Cai, Guiqing G; Haroutunian, Vahram V; Scott, William K WK; Vance, Jeffery M JM; Slifer, Michael A MA; Gwirtsman, Harry E HE; Gilbert, John R JR; Haines, Jonathan L JL; Buxbaum, Joseph D JD; Pericak-Vance, Margaret A MA
Publication Date: 2010-09-23

Variant appearance in text: rs2073067
PubMed Link: 20885792
Variant Present in the following documents:
  • Main text
  • pgen.1001130.pdf
View BVdb publication page