MTHFR c.1529A>C ;(p.K510T)

Variant ID: 1-11853965-T-G

NM_005957.4(MTHFR):c.1529A>C;(p.K510T)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.

Jama Network Open
Liu, Ning N; Xiao, Jing J; Gijavanekar, Charul C; Pappan, Kirk L KL; Glinton, Kevin E KE; Shayota, Brian J BJ; Kennedy, Adam D AD; Sun, Qin Q; Sutton, V Reid VR; Elsea, Sarah H SH
Publication Date: 2021-07-01

Variant appearance in text: MTHFR: 1529A>C; Lys510Thr
PubMed Link: 34251446
Variant Present in the following documents:
  • jamanetwopen-e2114155-s001.pdf
View BVdb publication page