MTHFD1L c.2420G>A ;(p.R807H)

Variant ID: 6-151336663-G-A

NM_015440.4(MTHFD1L):c.2420G>A;(p.R807H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases
Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY
Publication Date: 2020-12

Variant appearance in text: MTHFD1L: R807H; rs200271701
PubMed Link: 33362202
Variant Present in the following documents:
  • pntd.0008883.s010.xlsx, sheet 1
View BVdb publication page



Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports
Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM
Publication Date: 2018-07-19

Variant appearance in text: rs200271701
PubMed Link: 30026549
Variant Present in the following documents:
  • 41598_2018_29279_MOESM1_ESM.pdf
View BVdb publication page